Canonical Allele Identifier: CA003175

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55365
• ClinVar RCV Id: RCV000112476 ; RCV001853017 ; RCV002336188
• dbSNP Id: rs80357043
• gnomAD v3: 17-43067628-G-A
• gnomAD v4: 17-43067628-G-A
• MyVariant Identifiers: chr17:g.41219645G>A (hg19) ; chr17:g.43067628G>A (hg38)
• PubMed: PMID:20513136

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067628G>A , CM000679.2:g.43067628G>A	GRCh38
NC_000017.10:g.41219645G>A , CM000679.1:g.41219645G>A	GRCh37
NC_000017.9:g.38473171G>A	NCBI36
NG_005905.2:g.150356C>T , LRG_292:g.150356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5051C>T	ENSP00000417241.2:p.Thr1684Ile
ENST00000470026.6:c.5054C>T	ENSP00000419274.2:p.Thr1685Ile
ENST00000473961.6:c.4928C>T	ENSP00000420201.2:p.Thr1643Ile
ENST00000476777.6:c.5048C>T	ENSP00000417554.2:p.Thr1683Ile
ENST00000477152.6:c.4976C>T	ENSP00000419988.2:p.Thr1659Ile
ENST00000478531.6:c.1742C>T	ENSP00000420412.2:p.Thr581Ile
ENST00000489037.2:c.4976C>T	ENSP00000420781.2:p.Thr1659Ile
ENST00000493919.6:c.1604C>T	ENSP00000418819.2:p.Thr535Ile
ENST00000494123.6:c.5054C>T	ENSP00000419103.2:p.Thr1685Ile
ENST00000497488.2:c.4166C>T	ENSP00000418986.2:p.Thr1389Ile
ENST00000618469.2:c.5054C>T	ENSP00000478114.2:p.Thr1685Ile
ENST00000634433.2:c.4931C>T	ENSP00000489431.2:p.Thr1644Ile
ENST00000644379.2:c.5120C>T	ENSP00000496570.2:p.Thr1707Ile
ENST00000644555.2:c.1604C>T	ENSP00000494614.2:p.Thr535Ile
ENST00000652672.2:c.4913C>T	ENSP00000498906.2:p.Thr1638Ile
ENST00000484087.6:c.1616C>T	ENSP00000419481.2:p.Thr539Ile
ENST00000357654.9:c.5054C>T MANE Select	ENSP00000350283.3:p.Thr1685Ile
ENST00000471181.7:c.5117C>T	ENSP00000418960.2:p.Thr1706Ile
ENST00000644379.1:c.1441C>T
ENST00000352993.7:c.1628C>T	ENSP00000312236.5:p.Thr543Ile
ENST00000357654.7:c.5054C>T	ENSP00000350283.3:p.Thr1685Ile
ENST00000461221.5:c.*4837C>T	ENSP00000418548.1:n.*4837C>T
ENST00000468300.5:c.1742C>T	ENSP00000417148.1:p.Thr581Ile
ENST00000471181.6:c.5117C>T	ENSP00000418960.2:p.Thr1706Ile
ENST00000472490.1:n.207C>T
ENST00000478531.5:c.1742C>T	ENSP00000420412.1:p.Thr581Ile
ENST00000484087.5:c.1367C>T	ENSP00000419481.1:p.Thr456Ile
ENST00000491747.6:c.1742C>T	ENSP00000420705.2:p.Thr581Ile
ENST00000493795.5:c.4913C>T	ENSP00000418775.1:p.Thr1638Ile
ENST00000493919.5:c.1604C>T	ENSP00000418819.1:p.Thr535Ile
ENST00000586385.5:c.5-3677C>T	ENSP00000465818.1:n.5-3677C>T
ENST00000591534.5:c.527C>T	ENSP00000467329.1:p.Thr176Ile
ENST00000591849.5:c.-98-17438C>T	ENSP00000465347.1:n.-98-17438C>T
NM_007294.3:c.5054C>T , LRG_292t1:c.5054C>T	NP_009225.1:p.Thr1685Ile
NM_007297.3:c.4913C>T	NP_009228.2:p.Thr1638Ile
NM_007298.3:c.1742C>T	NP_009229.2:p.Thr581Ile
NM_007299.3:c.1742C>T	NP_009230.2:p.Thr581Ile
NM_007300.3:c.5117C>T	NP_009231.2:p.Thr1706Ile
NR_027676.1:n.5190C>T
NM_007294.4:c.5054C>T MANE Select	NP_009225.1:p.Thr1685Ile
NM_007297.4:c.4913C>T	NP_009228.2:p.Thr1638Ile
NM_007299.4:c.1742C>T	NP_009230.2:p.Thr581Ile
NM_007300.4:c.5117C>T	NP_009231.2:p.Thr1706Ile
NR_027676.2:n.5231C>T