Canonical Allele Identifier: CA10580481

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 233238
• ClinVar RCV Id: RCV000217888 ; RCV002298540 ; RCV001078041
• dbSNP Id: rs876660280
• MyVariant Identifiers: chr17:g.41197753T>C (hg19) ; chr17:g.43045736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045736T>C , CM000679.2:g.43045736T>C	GRCh38
NC_000017.10:g.41197753T>C , CM000679.1:g.41197753T>C	GRCh37
NC_000017.9:g.38451279T>C	NCBI36
NG_005905.2:g.172248A>G , LRG_292:g.172248A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5531A>G	ENSP00000417241.2:p.Tyr1844Cys
ENST00000470026.6:c.5534A>G	ENSP00000419274.2:p.Tyr1845Cys
ENST00000473961.6:c.5408A>G	ENSP00000420201.2:p.Tyr1803Cys
ENST00000476777.6:c.5528A>G	ENSP00000417554.2:p.Tyr1843Cys
ENST00000477152.6:c.5456A>G	ENSP00000419988.2:p.Tyr1819Cys
ENST00000478531.6:c.2222A>G	ENSP00000420412.2:p.Tyr741Cys
ENST00000489037.2:c.5456A>G	ENSP00000420781.2:p.Tyr1819Cys
ENST00000493919.6:c.2084A>G	ENSP00000418819.2:p.Tyr695Cys
ENST00000494123.6:c.5534A>G	ENSP00000419103.2:p.Tyr1845Cys
ENST00000497488.2:c.4646A>G	ENSP00000418986.2:p.Tyr1549Cys
ENST00000618469.2:c.5534A>G	ENSP00000478114.2:p.Tyr1845Cys
ENST00000634433.2:c.5411A>G	ENSP00000489431.2:p.Tyr1804Cys
ENST00000644379.2:c.5600A>G	ENSP00000496570.2:p.Tyr1867Cys
ENST00000644555.2:c.2084A>G	ENSP00000494614.2:p.Tyr695Cys
ENST00000652672.2:c.5393A>G	ENSP00000498906.2:p.Tyr1798Cys
ENST00000484087.6:c.2096A>G	ENSP00000419481.2:p.Tyr699Cys
ENST00000700081.1:n.1417A>G
ENST00000700082.1:n.898A>G
ENST00000357654.9:c.5534A>G MANE Select	ENSP00000350283.3:p.Tyr1845Cys
ENST00000471181.7:c.5597A>G	ENSP00000418960.2:p.Tyr1866Cys
ENST00000644379.1:c.1921A>G
ENST00000352993.7:c.2108A>G	ENSP00000312236.5:p.Tyr703Cys
ENST00000357654.7:c.5534A>G	ENSP00000350283.3:p.Tyr1845Cys
ENST00000461221.5:c.*5317A>G	ENSP00000418548.1:n.*5317A>G
ENST00000468300.5:c.*48A>G	ENSP00000417148.1:n.*48A>G
ENST00000471181.6:c.5597A>G	ENSP00000418960.2:p.Tyr1866Cys
ENST00000491747.6:c.2222A>G	ENSP00000420705.2:p.Tyr741Cys
ENST00000493795.5:c.5393A>G	ENSP00000418775.1:p.Tyr1798Cys
ENST00000586385.5:c.464A>G	ENSP00000465818.1:p.Tyr155Cys
ENST00000591534.5:c.1007A>G	ENSP00000467329.1:p.Tyr336Cys
ENST00000591849.5:c.233A>G	ENSP00000465347.1:p.Tyr78Cys
NM_007294.3:c.5534A>G , LRG_292t1:c.5534A>G	NP_009225.1:p.Tyr1845Cys
NM_007297.3:c.5393A>G	NP_009228.2:p.Tyr1798Cys
NM_007298.3:c.2222A>G	NP_009229.2:p.Tyr741Cys
NM_007299.3:c.*48A>G	NP_009230.2:n.*48A>G
NM_007300.3:c.5597A>G	NP_009231.2:p.Tyr1866Cys
NR_027676.1:n.5670A>G
NM_007294.4:c.5534A>G MANE Select	NP_009225.1:p.Tyr1845Cys
NM_007297.4:c.5393A>G	NP_009228.2:p.Tyr1798Cys
NM_007299.4:c.*48A>G	NP_009230.2:n.*48A>G
NM_007300.4:c.5597A>G	NP_009231.2:p.Tyr1866Cys
NR_027676.2:n.5711A>G