Canonical Allele Identifier: CA002941

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55248
• ClinVar RCV Id: RCV000577493 ; RCV000660995
• dbSNP Id: rs80357180
• MyVariant Identifiers: chr17:g.41251876G>A (hg19) ; chr17:g.43099859G>A (hg38)
• PubMed: PMID:12815604

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43099859G>A , CM000679.2:g.43099859G>A	GRCh38
NC_000017.10:g.41251876G>A , CM000679.1:g.41251876G>A	GRCh37
NC_000017.9:g.38505402G>A	NCBI36
NG_005905.2:g.118125C>T , LRG_292:g.118125C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.527C>T
ENST00000461574.2:c.463C>T	ENSP00000417241.2:p.Gln155Ter
ENST00000470026.6:c.463C>T	ENSP00000419274.2:p.Gln155Ter
ENST00000473961.6:c.460C>T	ENSP00000420201.2:p.Gln154Ter
ENST00000476777.6:c.460C>T	ENSP00000417554.2:p.Gln154Ter
ENST00000477152.6:c.385C>T	ENSP00000419988.2:p.Gln129Ter
ENST00000478531.6:c.460C>T	ENSP00000420412.2:p.Gln154Ter
ENST00000489037.2:c.385C>T	ENSP00000420781.2:p.Gln129Ter
ENST00000493919.6:c.322C>T	ENSP00000418819.2:p.Gln108Ter
ENST00000494123.6:c.463C>T	ENSP00000419103.2:p.Gln155Ter
ENST00000497488.2:c.-218-4999C>T	ENSP00000418986.2:n.-218-4999C>T
ENST00000618469.2:c.463C>T	ENSP00000478114.2:p.Gln155Ter
ENST00000634433.2:c.463C>T	ENSP00000489431.2:p.Gln155Ter
ENST00000644379.2:c.463C>T	ENSP00000496570.2:p.Gln155Ter
ENST00000644555.2:c.322C>T	ENSP00000494614.2:p.Gln108Ter
ENST00000652672.2:c.322C>T	ENSP00000498906.2:p.Gln108Ter
ENST00000484087.6:c.463C>T	ENSP00000419481.2:p.Gln155Ter
ENST00000700182.1:c.382C>T	ENSP00000514849.1:p.Gln128Ter
ENST00000700183.1:c.*377C>T	ENSP00000514850.1:n.*377C>T
ENST00000700184.1:n.703C>T
ENST00000357654.9:c.463C>T MANE Select	ENSP00000350283.3:p.Gln155Ter
ENST00000471181.7:c.463C>T	ENSP00000418960.2:p.Gln155Ter
ENST00000642945.1:c.*337C>T	ENSP00000495897.1:n.*337C>T
ENST00000652672.1:c.322C>T	ENSP00000498906.1:p.Gln108Ter
ENST00000352993.7:c.463C>T	ENSP00000312236.5:p.Gln155Ter
ENST00000354071.7:c.463C>T	ENSP00000326002.7:p.Gln155Ter
ENST00000357654.7:c.463C>T	ENSP00000350283.3:p.Gln155Ter
ENST00000461221.5:c.*246C>T	ENSP00000418548.1:n.*246C>T
ENST00000461798.5:c.*249C>T	ENSP00000417988.1:n.*249C>T
ENST00000468300.5:c.463C>T	ENSP00000417148.1:p.Gln155Ter
ENST00000470026.5:c.463C>T	ENSP00000419274.1:p.Gln155Ter
ENST00000471181.6:c.463C>T	ENSP00000418960.2:p.Gln155Ter
ENST00000473961.5:c.183C>T
ENST00000476777.5:c.460C>T	ENSP00000417554.1:p.Gln154Ter
ENST00000477152.5:c.385C>T	ENSP00000419988.1:p.Gln129Ter
ENST00000478531.5:c.460C>T	ENSP00000420412.1:p.Gln154Ter
ENST00000484087.5:c.208C>T	ENSP00000419481.1:p.Gln70Ter
ENST00000487825.5:c.211C>T	ENSP00000418212.1:p.Gln71Ter
ENST00000491747.6:c.463C>T	ENSP00000420705.2:p.Gln155Ter
ENST00000492859.5:c.*399C>T	ENSP00000420253.1:n.*399C>T
ENST00000493795.5:c.322C>T	ENSP00000418775.1:p.Gln108Ter
ENST00000493919.5:c.322C>T	ENSP00000418819.1:p.Gln108Ter
ENST00000494123.5:c.463C>T	ENSP00000419103.1:p.Gln155Ter
ENST00000497488.1:c.-218-4999C>T	ENSP00000418986.1:n.-218-4999C>T
ENST00000586385.5:c.4+25323C>T	ENSP00000465818.1:n.4+25323C>T
ENST00000591534.5:c.-43-25338C>T	ENSP00000467329.1:n.-43-25338C>T
ENST00000591849.5:c.-99+25412C>T	ENSP00000465347.1:n.-99+25412C>T
ENST00000634433.1:c.463C>T	ENSP00000489431.1:p.Gln155Ter
NM_007294.3:c.463C>T , LRG_292t1:c.463C>T	NP_009225.1:p.Gln155Ter
NM_007297.3:c.322C>T	NP_009228.2:p.Gln108Ter
NM_007298.3:c.463C>T	NP_009229.2:p.Gln155Ter
NM_007299.3:c.463C>T	NP_009230.2:p.Gln155Ter
NM_007300.3:c.463C>T	NP_009231.2:p.Gln155Ter
NR_027676.1:n.599C>T
NM_007294.4:c.463C>T MANE Select	NP_009225.1:p.Gln155Ter
NM_007297.4:c.322C>T	NP_009228.2:p.Gln108Ter
NM_007299.4:c.463C>T	NP_009230.2:p.Gln155Ter
NM_007300.4:c.463C>T	NP_009231.2:p.Gln155Ter
NR_027676.2:n.640C>T