Canonical Allele Identifier: CA003703

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55619
• ClinVar RCV Id: RCV000112698
• dbSNP Id: rs80356977
• MyVariant Identifiers: chr17:g.41197752G>T (hg19) ; chr17:g.43045735G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045735G>T , CM000679.2:g.43045735G>T	GRCh38
NC_000017.10:g.41197752G>T , CM000679.1:g.41197752G>T	GRCh37
NC_000017.9:g.38451278G>T	NCBI36
NG_005905.2:g.172249C>A , LRG_292:g.172249C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5532C>A	ENSP00000417241.2:p.Tyr1844Ter
ENST00000470026.6:c.5535C>A	ENSP00000419274.2:p.Tyr1845Ter
ENST00000473961.6:c.5409C>A	ENSP00000420201.2:p.Tyr1803Ter
ENST00000476777.6:c.5529C>A	ENSP00000417554.2:p.Tyr1843Ter
ENST00000477152.6:c.5457C>A	ENSP00000419988.2:p.Tyr1819Ter
ENST00000478531.6:c.2223C>A	ENSP00000420412.2:p.Tyr741Ter
ENST00000489037.2:c.5457C>A	ENSP00000420781.2:p.Tyr1819Ter
ENST00000493919.6:c.2085C>A	ENSP00000418819.2:p.Tyr695Ter
ENST00000494123.6:c.5535C>A	ENSP00000419103.2:p.Tyr1845Ter
ENST00000497488.2:c.4647C>A	ENSP00000418986.2:p.Tyr1549Ter
ENST00000618469.2:c.5535C>A	ENSP00000478114.2:p.Tyr1845Ter
ENST00000634433.2:c.5412C>A	ENSP00000489431.2:p.Tyr1804Ter
ENST00000644379.2:c.5601C>A	ENSP00000496570.2:p.Tyr1867Ter
ENST00000644555.2:c.2085C>A	ENSP00000494614.2:p.Tyr695Ter
ENST00000652672.2:c.5394C>A	ENSP00000498906.2:p.Tyr1798Ter
ENST00000484087.6:c.2097C>A	ENSP00000419481.2:p.Tyr699Ter
ENST00000700081.1:n.1418C>A
ENST00000700082.1:n.899C>A
ENST00000357654.9:c.5535C>A MANE Select	ENSP00000350283.3:p.Tyr1845Ter
ENST00000471181.7:c.5598C>A	ENSP00000418960.2:p.Tyr1866Ter
ENST00000644379.1:c.1922C>A
ENST00000352993.7:c.2109C>A	ENSP00000312236.5:p.Tyr703Ter
ENST00000357654.7:c.5535C>A	ENSP00000350283.3:p.Tyr1845Ter
ENST00000461221.5:c.*5318C>A	ENSP00000418548.1:n.*5318C>A
ENST00000468300.5:c.*49C>A	ENSP00000417148.1:n.*49C>A
ENST00000471181.6:c.5598C>A	ENSP00000418960.2:p.Tyr1866Ter
ENST00000491747.6:c.2223C>A	ENSP00000420705.2:p.Tyr741Ter
ENST00000493795.5:c.5394C>A	ENSP00000418775.1:p.Tyr1798Ter
ENST00000586385.5:c.465C>A	ENSP00000465818.1:p.Tyr155Ter
ENST00000591534.5:c.1008C>A	ENSP00000467329.1:p.Tyr336Ter
ENST00000591849.5:c.234C>A	ENSP00000465347.1:p.Tyr78Ter
NM_007294.3:c.5535C>A , LRG_292t1:c.5535C>A	NP_009225.1:p.Tyr1845Ter
NM_007297.3:c.5394C>A	NP_009228.2:p.Tyr1798Ter
NM_007298.3:c.2223C>A	NP_009229.2:p.Tyr741Ter
NM_007299.3:c.*49C>A	NP_009230.2:n.*49C>A
NM_007300.3:c.5598C>A	NP_009231.2:p.Tyr1866Ter
NR_027676.1:n.5671C>A
NM_007294.4:c.5535C>A MANE Select	NP_009225.1:p.Tyr1845Ter
NM_007297.4:c.5394C>A	NP_009228.2:p.Tyr1798Ter
NM_007299.4:c.*49C>A	NP_009230.2:n.*49C>A
NM_007300.4:c.5598C>A	NP_009231.2:p.Tyr1866Ter
NR_027676.2:n.5712C>A