Canonical Allele Identifier: CA10590146

Gene: BRCA1

Linked Data

• dbSNP Id: rs1224760267
• MyVariant Identifiers: chr17:g.41197698G>C (hg19) ; chr17:g.43045681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045681G>C , CM000679.2:g.43045681G>C	GRCh38
NC_000017.10:g.41197698G>C , CM000679.1:g.41197698G>C	GRCh37
NC_000017.9:g.38451224G>C	NCBI36
NG_005905.2:g.172303C>G , LRG_292:g.172303C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5586C>G	ENSP00000417241.2:p.Tyr1862Ter
ENST00000470026.6:c.5589C>G	ENSP00000419274.2:p.Tyr1863Ter
ENST00000473961.6:c.5463C>G	ENSP00000420201.2:p.Tyr1821Ter
ENST00000476777.6:c.5583C>G	ENSP00000417554.2:p.Tyr1861Ter
ENST00000477152.6:c.5511C>G	ENSP00000419988.2:p.Tyr1837Ter
ENST00000478531.6:c.2277C>G	ENSP00000420412.2:p.Tyr759Ter
ENST00000489037.2:c.5511C>G	ENSP00000420781.2:p.Tyr1837Ter
ENST00000493919.6:c.2139C>G	ENSP00000418819.2:p.Tyr713Ter
ENST00000494123.6:c.5589C>G	ENSP00000419103.2:p.Tyr1863Ter
ENST00000497488.2:c.4701C>G	ENSP00000418986.2:p.Tyr1567Ter
ENST00000618469.2:c.5589C>G	ENSP00000478114.2:p.Tyr1863Ter
ENST00000634433.2:c.5466C>G	ENSP00000489431.2:p.Tyr1822Ter
ENST00000644379.2:c.5655C>G	ENSP00000496570.2:p.Tyr1885Ter
ENST00000644555.2:c.2139C>G	ENSP00000494614.2:p.Tyr713Ter
ENST00000652672.2:c.5448C>G	ENSP00000498906.2:p.Tyr1816Ter
ENST00000484087.6:c.2151C>G	ENSP00000419481.2:p.Tyr717Ter
ENST00000700081.1:n.1472C>G
ENST00000700082.1:n.953C>G
ENST00000357654.9:c.5589C>G MANE Select	ENSP00000350283.3:p.Tyr1863Ter
ENST00000471181.7:c.5652C>G	ENSP00000418960.2:p.Tyr1884Ter
ENST00000644379.1:c.1976C>G
ENST00000352993.7:c.2163C>G	ENSP00000312236.5:p.Tyr721Ter
ENST00000357654.7:c.5589C>G	ENSP00000350283.3:p.Tyr1863Ter
ENST00000461221.5:c.*5372C>G	ENSP00000418548.1:n.*5372C>G
ENST00000468300.5:c.*103C>G	ENSP00000417148.1:n.*103C>G
ENST00000471181.6:c.5652C>G	ENSP00000418960.2:p.Tyr1884Ter
ENST00000491747.6:c.2277C>G	ENSP00000420705.2:p.Tyr759Ter
ENST00000493795.5:c.5448C>G	ENSP00000418775.1:p.Tyr1816Ter
ENST00000586385.5:c.519C>G	ENSP00000465818.1:p.Tyr173Ter
ENST00000591534.5:c.1062C>G	ENSP00000467329.1:p.Tyr354Ter
ENST00000591849.5:c.288C>G	ENSP00000465347.1:p.Tyr96Ter
NM_007294.3:c.5589C>G , LRG_292t1:c.5589C>G	NP_009225.1:p.Tyr1863Ter
NM_007297.3:c.5448C>G	NP_009228.2:p.Tyr1816Ter
NM_007298.3:c.2277C>G	NP_009229.2:p.Tyr759Ter
NM_007299.3:c.*103C>G	NP_009230.2:n.*103C>G
NM_007300.3:c.5652C>G	NP_009231.2:p.Tyr1884Ter
NR_027676.1:n.5725C>G
NM_007294.4:c.5589C>G MANE Select	NP_009225.1:p.Tyr1863Ter
NM_007297.4:c.5448C>G	NP_009228.2:p.Tyr1816Ter
NM_007299.4:c.*103C>G	NP_009230.2:n.*103C>G
NM_007300.4:c.5652C>G	NP_009231.2:p.Tyr1884Ter
NR_027676.2:n.5766C>G