Canonical Allele Identifier: CA10591312

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 869038
• ClinVar RCV Id: RCV001078066
• dbSNP Id: rs80356974
• MyVariant Identifiers: chr17:g.41215934A>T (hg19) ; chr17:g.43063917A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063917A>T , CM000679.2:g.43063917A>T	GRCh38
NC_000017.10:g.41215934A>T , CM000679.1:g.41215934A>T	GRCh37
NC_000017.9:g.38469460A>T	NCBI36
NG_005905.2:g.154067T>A , LRG_292:g.154067T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5106T>A	ENSP00000417241.2:p.Tyr1702Ter
ENST00000470026.6:c.5109T>A	ENSP00000419274.2:p.Tyr1703Ter
ENST00000473961.6:c.4983T>A	ENSP00000420201.2:p.Tyr1661Ter
ENST00000476777.6:c.5103T>A	ENSP00000417554.2:p.Tyr1701Ter
ENST00000477152.6:c.5031T>A	ENSP00000419988.2:p.Tyr1677Ter
ENST00000478531.6:c.1797T>A	ENSP00000420412.2:p.Tyr599Ter
ENST00000489037.2:c.5031T>A	ENSP00000420781.2:p.Tyr1677Ter
ENST00000493919.6:c.1659T>A	ENSP00000418819.2:p.Tyr553Ter
ENST00000494123.6:c.5109T>A	ENSP00000419103.2:p.Tyr1703Ter
ENST00000497488.2:c.4221T>A	ENSP00000418986.2:p.Tyr1407Ter
ENST00000618469.2:c.5109T>A	ENSP00000478114.2:p.Tyr1703Ter
ENST00000634433.2:c.4986T>A	ENSP00000489431.2:p.Tyr1662Ter
ENST00000644379.2:c.5175T>A	ENSP00000496570.2:p.Tyr1725Ter
ENST00000644555.2:c.1659T>A	ENSP00000494614.2:p.Tyr553Ter
ENST00000652672.2:c.4968T>A	ENSP00000498906.2:p.Tyr1656Ter
ENST00000484087.6:c.1671T>A	ENSP00000419481.2:p.Tyr557Ter
ENST00000357654.9:c.5109T>A MANE Select	ENSP00000350283.3:p.Tyr1703Ter
ENST00000471181.7:c.5172T>A	ENSP00000418960.2:p.Tyr1724Ter
ENST00000644379.1:c.1496T>A
ENST00000352993.7:c.1683T>A	ENSP00000312236.5:p.Tyr561Ter
ENST00000357654.7:c.5109T>A	ENSP00000350283.3:p.Tyr1703Ter
ENST00000461221.5:c.*4892T>A	ENSP00000418548.1:n.*4892T>A
ENST00000468300.5:c.1797T>A	ENSP00000417148.1:p.Tyr599Ter
ENST00000471181.6:c.5172T>A	ENSP00000418960.2:p.Tyr1724Ter
ENST00000478531.5:c.1797T>A	ENSP00000420412.1:p.Tyr599Ter
ENST00000484087.5:c.1422T>A	ENSP00000419481.1:p.Tyr474Ter
ENST00000491747.6:c.1797T>A	ENSP00000420705.2:p.Tyr599Ter
ENST00000493795.5:c.4968T>A	ENSP00000418775.1:p.Tyr1656Ter
ENST00000493919.5:c.1659T>A	ENSP00000418819.1:p.Tyr553Ter
ENST00000586385.5:c.39T>A	ENSP00000465818.1:p.Tyr13Ter
ENST00000591534.5:c.582T>A	ENSP00000467329.1:p.Tyr194Ter
ENST00000591849.5:c.-98-13727T>A	ENSP00000465347.1:n.-98-13727T>A
NM_007294.3:c.5109T>A , LRG_292t1:c.5109T>A	NP_009225.1:p.Tyr1703Ter
NM_007297.3:c.4968T>A	NP_009228.2:p.Tyr1656Ter
NM_007298.3:c.1797T>A	NP_009229.2:p.Tyr599Ter
NM_007299.3:c.1797T>A	NP_009230.2:p.Tyr599Ter
NM_007300.3:c.5172T>A	NP_009231.2:p.Tyr1724Ter
NR_027676.1:n.5245T>A
NM_007294.4:c.5109T>A MANE Select	NP_009225.1:p.Tyr1703Ter
NM_007297.4:c.4968T>A	NP_009228.2:p.Tyr1656Ter
NM_007299.4:c.1797T>A	NP_009230.2:p.Tyr599Ter
NM_007300.4:c.5172T>A	NP_009231.2:p.Tyr1724Ter
NR_027676.2:n.5286T>A