Canonical Allele Identifier: CA002402
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17672
dbSNP Id: rs28897686

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091783C>A , CM000679.2:g.43091783C>A GRCh38
NC_000017.10:g.41243800C>A , CM000679.1:g.41243800C>A GRCh37
NC_000017.9:g.38497326C>A NCBI36
NG_005905.2:g.126201G>T , LRG_292:g.126201G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3812G>T
ENST00000461574.2:c.3748G>T ENSP00000417241.2:p.Glu1250Ter
ENST00000470026.6:c.3748G>T ENSP00000419274.2:p.Glu1250Ter
ENST00000473961.6:c.3622G>T ENSP00000420201.2:p.Glu1208Ter
ENST00000476777.6:c.3745G>T ENSP00000417554.2:p.Glu1249Ter
ENST00000477152.6:c.3670G>T ENSP00000419988.2:p.Glu1224Ter
ENST00000478531.6:c.785-751G>T ENSP00000420412.2:n.785-751G>T
ENST00000489037.2:c.3670G>T ENSP00000420781.2:p.Glu1224Ter
ENST00000493919.6:c.647-751G>T ENSP00000418819.2:n.647-751G>T
ENST00000494123.6:c.3748G>T ENSP00000419103.2:p.Glu1250Ter
ENST00000497488.2:c.2860G>T ENSP00000418986.2:p.Glu954Ter
ENST00000618469.2:c.3748G>T ENSP00000478114.2:p.Glu1250Ter
ENST00000634433.2:c.3625G>T ENSP00000489431.2:p.Glu1209Ter
ENST00000644379.2:c.3748G>T ENSP00000496570.2:p.Glu1250Ter
ENST00000644555.2:c.647-751G>T ENSP00000494614.2:n.647-751G>T
ENST00000652672.2:c.3607G>T ENSP00000498906.2:p.Glu1203Ter
ENST00000484087.6:c.665-751G>T ENSP00000419481.2:n.665-751G>T
ENST00000700182.1:c.707-751G>T ENSP00000514849.1:n.707-751G>T
ENST00000357654.9:c.3748G>T MANE Select ENSP00000350283.3:p.Glu1250Ter
ENST00000471181.7:c.3748G>T ENSP00000418960.2:p.Glu1250Ter
ENST00000644379.1:c.69G>T
ENST00000352993.7:c.671-751G>T ENSP00000312236.5:n.671-751G>T
ENST00000354071.7:c.3748G>T ENSP00000326002.7:p.Glu1250Ter
ENST00000357654.7:c.3748G>T ENSP00000350283.3:p.Glu1250Ter
ENST00000461221.5:c.*3531G>T ENSP00000418548.1:n.*3531G>T
ENST00000461574.1:c.42G>T
ENST00000468300.5:c.788-751G>T ENSP00000417148.1:n.788-751G>T
ENST00000471181.6:c.3748G>T ENSP00000418960.2:p.Glu1250Ter
ENST00000478531.5:c.785-751G>T ENSP00000420412.1:n.785-751G>T
ENST00000484087.5:c.410-751G>T ENSP00000419481.1:n.410-751G>T
ENST00000487825.5:c.413-751G>T ENSP00000418212.1:n.413-751G>T
ENST00000491747.6:c.788-751G>T ENSP00000420705.2:n.788-751G>T
ENST00000493795.5:c.3607G>T ENSP00000418775.1:p.Glu1203Ter
ENST00000493919.5:c.647-751G>T ENSP00000418819.1:n.647-751G>T
ENST00000586385.5:c.5-27832G>T ENSP00000465818.1:n.5-27832G>T
ENST00000591534.5:c.-43-17262G>T ENSP00000467329.1:n.-43-17262G>T
ENST00000591849.5:c.-99+33488G>T ENSP00000465347.1:n.-99+33488G>T
NM_007294.3:c.3748G>T , LRG_292t1:c.3748G>T NP_009225.1:p.Glu1250Ter
NM_007297.3:c.3607G>T NP_009228.2:p.Glu1203Ter
NM_007298.3:c.788-751G>T NP_009229.2:n.788-751G>T
NM_007299.3:c.788-751G>T NP_009230.2:n.788-751G>T
NM_007300.3:c.3748G>T NP_009231.2:p.Glu1250Ter
NR_027676.1:n.3884G>T
NM_007294.4:c.3748G>T MANE Select NP_009225.1:p.Glu1250Ter
NM_007297.4:c.3607G>T NP_009228.2:p.Glu1203Ter
NM_007299.4:c.788-751G>T NP_009230.2:n.788-751G>T
NM_007300.4:c.3748G>T NP_009231.2:p.Glu1250Ter
NR_027676.2:n.3925G>T