ClinVar

NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)

Gene:

SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.13

Genomic location:

• Chr14: 94380925 (on Assembly GRCh38)
• Chr14: 94847262 (on Assembly GRCh37)

Preferred name:

NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)

Other names:

E264V; PI*S; SERPINA1, GLU264VAL ON M1V; S

HGVS:

• NC_000014.9:g.94380925T>A
• NG_008290.1:g.14768A>T
• NM_000295.5:c.863A>TMANE SELECT
• NM_001002235.3:c.863A>T
• NM_001002236.3:c.863A>T
• NM_001127700.2:c.863A>T
• NM_001127701.2:c.863A>T
• NM_001127702.2:c.863A>T
• NM_001127703.2:c.863A>T
• NM_001127704.2:c.863A>T
• NM_001127705.2:c.863A>T
• NM_001127706.2:c.863A>T
• NM_001127707.2:c.863A>T
• NP_000286.3:p.Glu288Val
• NP_000286.3:p.Glu288Val
• NP_001002235.1:p.Glu288Val
• NP_001002236.1:p.Glu288Val
• NP_001121172.1:p.Glu288Val
• NP_001121173.1:p.Glu288Val
• NP_001121173.1:p.Glu288Val
• NP_001121174.1:p.Glu288Val
• NP_001121175.1:p.Glu288Val
• NP_001121176.1:p.Glu288Val
• NP_001121177.1:p.Glu288Val
• NP_001121178.1:p.Glu288Val
• NP_001121179.1:p.Glu288Val
• LRG_575t1:c.863A>T
• LRG_575:g.14768A>T
• LRG_575p1:p.Glu288Val
• NC_000014.8:g.94847262T>A
• NM_000295.4:c.863A>T
• NM_000295.5:c.863A>T
• NM_001127701.1:c.863A>T
• P01009:p.Glu288Val

This HGVS expression did not pass validation

Protein change:

E288V; Glu264Val

Links:

Genetic Testing Registry (GTR): GTR000006840; UniProtKB: P01009#VAR_007000; OMIM: 107400.0013; dbSNP: rs17580

NCBI 1000 Genomes Browser:

rs17580

Molecular consequence:

• NM_000295.5:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001002235.3:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001002236.3:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127700.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127701.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127702.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127703.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127704.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127705.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127706.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127707.2:c.863A>T - missense variant - [Sequence Ontology: SO:0001583]