Canonical Allele Identifier: CA10586112

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 252884
• ClinVar RCV Id: RCV000238883 ; RCV001290639 ; RCV003644950
• dbSNP Id: rs863224763
• MyVariant Identifiers: chr17:g.41215936A>C (hg19) ; chr17:g.43063919A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063919A>C , CM000679.2:g.43063919A>C	GRCh38
NC_000017.10:g.41215936A>C , CM000679.1:g.41215936A>C	GRCh37
NC_000017.9:g.38469462A>C	NCBI36
NG_005905.2:g.154065T>G , LRG_292:g.154065T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5104T>G	ENSP00000417241.2:p.Tyr1702Asp
ENST00000470026.6:c.5107T>G	ENSP00000419274.2:p.Tyr1703Asp
ENST00000473961.6:c.4981T>G	ENSP00000420201.2:p.Tyr1661Asp
ENST00000476777.6:c.5101T>G	ENSP00000417554.2:p.Tyr1701Asp
ENST00000477152.6:c.5029T>G	ENSP00000419988.2:p.Tyr1677Asp
ENST00000478531.6:c.1795T>G	ENSP00000420412.2:p.Tyr599Asp
ENST00000489037.2:c.5029T>G	ENSP00000420781.2:p.Tyr1677Asp
ENST00000493919.6:c.1657T>G	ENSP00000418819.2:p.Tyr553Asp
ENST00000494123.6:c.5107T>G	ENSP00000419103.2:p.Tyr1703Asp
ENST00000497488.2:c.4219T>G	ENSP00000418986.2:p.Tyr1407Asp
ENST00000618469.2:c.5107T>G	ENSP00000478114.2:p.Tyr1703Asp
ENST00000634433.2:c.4984T>G	ENSP00000489431.2:p.Tyr1662Asp
ENST00000644379.2:c.5173T>G	ENSP00000496570.2:p.Tyr1725Asp
ENST00000644555.2:c.1657T>G	ENSP00000494614.2:p.Tyr553Asp
ENST00000652672.2:c.4966T>G	ENSP00000498906.2:p.Tyr1656Asp
ENST00000484087.6:c.1669T>G	ENSP00000419481.2:p.Tyr557Asp
ENST00000357654.9:c.5107T>G MANE Select	ENSP00000350283.3:p.Tyr1703Asp
ENST00000471181.7:c.5170T>G	ENSP00000418960.2:p.Tyr1724Asp
ENST00000644379.1:c.1494T>G
ENST00000352993.7:c.1681T>G	ENSP00000312236.5:p.Tyr561Asp
ENST00000357654.7:c.5107T>G	ENSP00000350283.3:p.Tyr1703Asp
ENST00000461221.5:c.*4890T>G	ENSP00000418548.1:n.*4890T>G
ENST00000468300.5:c.1795T>G	ENSP00000417148.1:p.Tyr599Asp
ENST00000471181.6:c.5170T>G	ENSP00000418960.2:p.Tyr1724Asp
ENST00000478531.5:c.1795T>G	ENSP00000420412.1:p.Tyr599Asp
ENST00000484087.5:c.1420T>G	ENSP00000419481.1:p.Tyr474Asp
ENST00000491747.6:c.1795T>G	ENSP00000420705.2:p.Tyr599Asp
ENST00000493795.5:c.4966T>G	ENSP00000418775.1:p.Tyr1656Asp
ENST00000493919.5:c.1657T>G	ENSP00000418819.1:p.Tyr553Asp
ENST00000586385.5:c.37T>G	ENSP00000465818.1:p.Tyr13Asp
ENST00000591534.5:c.580T>G	ENSP00000467329.1:p.Tyr194Asp
ENST00000591849.5:c.-98-13729T>G	ENSP00000465347.1:n.-98-13729T>G
NM_007294.3:c.5107T>G , LRG_292t1:c.5107T>G	NP_009225.1:p.Tyr1703Asp
NM_007297.3:c.4966T>G	NP_009228.2:p.Tyr1656Asp
NM_007298.3:c.1795T>G	NP_009229.2:p.Tyr599Asp
NM_007299.3:c.1795T>G	NP_009230.2:p.Tyr599Asp
NM_007300.3:c.5170T>G	NP_009231.2:p.Tyr1724Asp
NR_027676.1:n.5243T>G
NM_007294.4:c.5107T>G MANE Select	NP_009225.1:p.Tyr1703Asp
NM_007297.4:c.4966T>G	NP_009228.2:p.Tyr1656Asp
NM_007299.4:c.1795T>G	NP_009230.2:p.Tyr599Asp
NM_007300.4:c.5170T>G	NP_009231.2:p.Tyr1724Asp
NR_027676.2:n.5284T>G