Canonical Allele Identifier: CA10589610

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057117C>A , CM000679.2:g.43057117C>A	GRCh38
NC_000017.10:g.41209134C>A , CM000679.1:g.41209134C>A	GRCh37
NC_000017.9:g.38462660C>A	NCBI36
NG_005905.2:g.160867G>T , LRG_292:g.160867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5209G>T	ENSP00000417241.2:p.Gly1737Ter
ENST00000470026.6:c.5212G>T	ENSP00000419274.2:p.Gly1738Ter
ENST00000473961.6:c.5086G>T	ENSP00000420201.2:p.Gly1696Ter
ENST00000476777.6:c.5206G>T	ENSP00000417554.2:p.Gly1736Ter
ENST00000477152.6:c.5134G>T	ENSP00000419988.2:p.Gly1712Ter
ENST00000478531.6:c.1900G>T	ENSP00000420412.2:p.Gly634Ter
ENST00000489037.2:c.5134G>T	ENSP00000420781.2:p.Gly1712Ter
ENST00000493919.6:c.1762G>T	ENSP00000418819.2:p.Gly588Ter
ENST00000494123.6:c.5212G>T	ENSP00000419103.2:p.Gly1738Ter
ENST00000497488.2:c.4324G>T	ENSP00000418986.2:p.Gly1442Ter
ENST00000618469.2:c.5212G>T	ENSP00000478114.2:p.Gly1738Ter
ENST00000634433.2:c.5089G>T	ENSP00000489431.2:p.Gly1697Ter
ENST00000644379.2:c.5278G>T	ENSP00000496570.2:p.Gly1760Ter
ENST00000644555.2:c.1762G>T	ENSP00000494614.2:p.Gly588Ter
ENST00000652672.2:c.5071G>T	ENSP00000498906.2:p.Gly1691Ter
ENST00000484087.6:c.1774G>T	ENSP00000419481.2:p.Gly592Ter
ENST00000357654.9:c.5212G>T MANE Select	ENSP00000350283.3:p.Gly1738Ter
ENST00000471181.7:c.5275G>T	ENSP00000418960.2:p.Gly1759Ter
ENST00000644379.1:c.1599G>T
ENST00000352993.7:c.1786G>T	ENSP00000312236.5:p.Gly596Ter
ENST00000357654.7:c.5212G>T	ENSP00000350283.3:p.Gly1738Ter
ENST00000461221.5:c.*4995G>T	ENSP00000418548.1:n.*4995G>T
ENST00000468300.5:c.1900G>T	ENSP00000417148.1:p.Gly634Ter
ENST00000471181.6:c.5275G>T	ENSP00000418960.2:p.Gly1759Ter
ENST00000491747.6:c.1900G>T	ENSP00000420705.2:p.Gly634Ter
ENST00000493795.5:c.5071G>T	ENSP00000418775.1:p.Gly1691Ter
ENST00000586385.5:c.142G>T	ENSP00000465818.1:p.Gly48Ter
ENST00000591534.5:c.685G>T	ENSP00000467329.1:p.Gly229Ter
ENST00000591849.5:c.-98-6927G>T	ENSP00000465347.1:n.-98-6927G>T
NM_007294.3:c.5212G>T , LRG_292t1:c.5212G>T	NP_009225.1:p.Gly1738Ter
NM_007297.3:c.5071G>T	NP_009228.2:p.Gly1691Ter
NM_007298.3:c.1900G>T	NP_009229.2:p.Gly634Ter
NM_007299.3:c.1900G>T	NP_009230.2:p.Gly634Ter
NM_007300.3:c.5275G>T	NP_009231.2:p.Gly1759Ter
NR_027676.1:n.5348G>T
NM_007294.4:c.5212G>T MANE Select	NP_009225.1:p.Gly1738Ter
NM_007297.4:c.5071G>T	NP_009228.2:p.Gly1691Ter
NM_007299.4:c.1900G>T	NP_009230.2:p.Gly634Ter
NM_007300.4:c.5275G>T	NP_009231.2:p.Gly1759Ter
NR_027676.2:n.5389G>T