Canonical Allele Identifier: CA000991

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37415
• ClinVar RCV Id: RCV000030996 ; RCV000047490 ; RCV000223308 ; RCV000657593
• dbSNP Id: rs80357010
• gnomAD v4: 17-43094051-G-A
• MyVariant Identifiers: chr17:g.41246068G>A (hg19) ; chr17:g.43094051G>A (hg38)
• PubMed: PMID:10866029 ; PMID:16267036 ; PMID:22798144 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094051G>A , CM000679.2:g.43094051G>A	GRCh38
NC_000017.10:g.41246068G>A , CM000679.1:g.41246068G>A	GRCh37
NC_000017.9:g.38499594G>A	NCBI36
NG_005905.2:g.123933C>T , LRG_292:g.123933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1544C>T
ENST00000461574.2:c.1480C>T	ENSP00000417241.2:p.Gln494Ter
ENST00000470026.6:c.1480C>T	ENSP00000419274.2:p.Gln494Ter
ENST00000473961.6:c.1354C>T	ENSP00000420201.2:p.Gln452Ter
ENST00000476777.6:c.1477C>T	ENSP00000417554.2:p.Gln493Ter
ENST00000477152.6:c.1402C>T	ENSP00000419988.2:p.Gln468Ter
ENST00000478531.6:c.784+693C>T	ENSP00000420412.2:n.784+693C>T
ENST00000489037.2:c.1402C>T	ENSP00000420781.2:p.Gln468Ter
ENST00000493919.6:c.646+693C>T	ENSP00000418819.2:n.646+693C>T
ENST00000494123.6:c.1480C>T	ENSP00000419103.2:p.Gln494Ter
ENST00000497488.2:c.592C>T	ENSP00000418986.2:p.Gln198Ter
ENST00000618469.2:c.1480C>T	ENSP00000478114.2:p.Gln494Ter
ENST00000634433.2:c.1357C>T	ENSP00000489431.2:p.Gln453Ter
ENST00000644379.2:c.1480C>T	ENSP00000496570.2:p.Gln494Ter
ENST00000644555.2:c.646+693C>T	ENSP00000494614.2:n.646+693C>T
ENST00000652672.2:c.1339C>T	ENSP00000498906.2:p.Gln447Ter
ENST00000484087.6:c.664+693C>T	ENSP00000419481.2:n.664+693C>T
ENST00000700182.1:c.706+693C>T	ENSP00000514849.1:n.706+693C>T
ENST00000700183.1:c.*1488C>T	ENSP00000514850.1:n.*1488C>T
ENST00000357654.9:c.1480C>T MANE Select	ENSP00000350283.3:p.Gln494Ter
ENST00000471181.7:c.1480C>T	ENSP00000418960.2:p.Gln494Ter
ENST00000652672.1:c.1339C>T	ENSP00000498906.1:p.Gln447Ter
ENST00000352993.7:c.670+1795C>T	ENSP00000312236.5:n.670+1795C>T
ENST00000354071.7:c.1480C>T	ENSP00000326002.7:p.Gln494Ter
ENST00000357654.7:c.1480C>T	ENSP00000350283.3:p.Gln494Ter
ENST00000412061.3:c.831C>T
ENST00000461221.5:c.*1263C>T	ENSP00000418548.1:n.*1263C>T
ENST00000468300.5:c.787+693C>T	ENSP00000417148.1:n.787+693C>T
ENST00000470026.5:c.1480C>T	ENSP00000419274.1:p.Gln494Ter
ENST00000471181.6:c.1480C>T	ENSP00000418960.2:p.Gln494Ter
ENST00000477152.5:c.1402C>T	ENSP00000419988.1:p.Gln468Ter
ENST00000478531.5:c.784+693C>T	ENSP00000420412.1:n.784+693C>T
ENST00000484087.5:c.409+693C>T	ENSP00000419481.1:n.409+693C>T
ENST00000487825.5:c.412+693C>T	ENSP00000418212.1:n.412+693C>T
ENST00000491747.6:c.787+693C>T	ENSP00000420705.2:n.787+693C>T
ENST00000493795.5:c.1339C>T	ENSP00000418775.1:p.Gln447Ter
ENST00000493919.5:c.646+693C>T	ENSP00000418819.1:n.646+693C>T
ENST00000586385.5:c.5-30100C>T	ENSP00000465818.1:n.5-30100C>T
ENST00000591534.5:c.-43-19530C>T	ENSP00000467329.1:n.-43-19530C>T
ENST00000591849.5:c.-99+31220C>T	ENSP00000465347.1:n.-99+31220C>T
ENST00000634433.1:c.1357C>T	ENSP00000489431.1:p.Gln453Ter
NM_007294.3:c.1480C>T , LRG_292t1:c.1480C>T	NP_009225.1:p.Gln494Ter
NM_007297.3:c.1339C>T	NP_009228.2:p.Gln447Ter
NM_007298.3:c.787+693C>T	NP_009229.2:n.787+693C>T
NM_007299.3:c.787+693C>T	NP_009230.2:n.787+693C>T
NM_007300.3:c.1480C>T	NP_009231.2:p.Gln494Ter
NR_027676.1:n.1616C>T
NM_007294.4:c.1480C>T MANE Select	NP_009225.1:p.Gln494Ter
NM_007297.4:c.1339C>T	NP_009228.2:p.Gln447Ter
NM_007299.4:c.787+693C>T	NP_009230.2:n.787+693C>T
NM_007300.4:c.1480C>T	NP_009231.2:p.Gln494Ter
NR_027676.2:n.1657C>T