Canonical Allele Identifier: CA500144811

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865167
• ClinVar RCV Id: RCV001072531
• dbSNP Id: rs2051522491
• MyVariant Identifiers: chr17:g.41209132T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057115T>G , CM000679.2:g.43057115T>G	GRCh38
NC_000017.10:g.41209132T>G , CM000679.1:g.41209132T>G	GRCh37
NC_000017.9:g.38462658T>G	NCBI36
NG_005905.2:g.160869A>C , LRG_292:g.160869A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5211A>C	ENSP00000417241.2:p.Gly1737=
ENST00000470026.6:c.5214A>C	ENSP00000419274.2:p.Gly1738=
ENST00000473961.6:c.5088A>C	ENSP00000420201.2:p.Gly1696=
ENST00000476777.6:c.5208A>C	ENSP00000417554.2:p.Gly1736=
ENST00000477152.6:c.5136A>C	ENSP00000419988.2:p.Gly1712=
ENST00000478531.6:c.1902A>C	ENSP00000420412.2:p.Gly634=
ENST00000489037.2:c.5136A>C	ENSP00000420781.2:p.Gly1712=
ENST00000493919.6:c.1764A>C	ENSP00000418819.2:p.Gly588=
ENST00000494123.6:c.5214A>C	ENSP00000419103.2:p.Gly1738=
ENST00000497488.2:c.4326A>C	ENSP00000418986.2:p.Gly1442=
ENST00000618469.2:c.5214A>C	ENSP00000478114.2:p.Gly1738=
ENST00000634433.2:c.5091A>C	ENSP00000489431.2:p.Gly1697=
ENST00000644379.2:c.5280A>C	ENSP00000496570.2:p.Gly1760=
ENST00000644555.2:c.1764A>C	ENSP00000494614.2:p.Gly588=
ENST00000652672.2:c.5073A>C	ENSP00000498906.2:p.Gly1691=
ENST00000484087.6:c.1776A>C	ENSP00000419481.2:p.Gly592=
ENST00000357654.9:c.5214A>C MANE Select	ENSP00000350283.3:p.Gly1738=
ENST00000471181.7:c.5277A>C	ENSP00000418960.2:p.Gly1759=
ENST00000644379.1:c.1601A>C
ENST00000352993.7:c.1788A>C	ENSP00000312236.5:p.Gly596=
ENST00000357654.7:c.5214A>C	ENSP00000350283.3:p.Gly1738=
ENST00000461221.5:c.*4997A>C	ENSP00000418548.1:n.*4997A>C
ENST00000468300.5:c.1902A>C	ENSP00000417148.1:p.Gly634=
ENST00000471181.6:c.5277A>C	ENSP00000418960.2:p.Gly1759=
ENST00000491747.6:c.1902A>C	ENSP00000420705.2:p.Gly634=
ENST00000493795.5:c.5073A>C	ENSP00000418775.1:p.Gly1691=
ENST00000586385.5:c.144A>C	ENSP00000465818.1:p.Gly48=
ENST00000591534.5:c.687A>C	ENSP00000467329.1:p.Gly229=
ENST00000591849.5:c.-98-6925A>C	ENSP00000465347.1:n.-98-6925A>C
NM_007294.3:c.5214A>C , LRG_292t1:c.5214A>C	NP_009225.1:p.Gly1738=
NM_007297.3:c.5073A>C	NP_009228.2:p.Gly1691=
NM_007298.3:c.1902A>C	NP_009229.2:p.Gly634=
NM_007299.3:c.1902A>C	NP_009230.2:p.Gly634=
NM_007300.3:c.5277A>C	NP_009231.2:p.Gly1759=
NR_027676.1:n.5350A>C
NM_007294.4:c.5214A>C MANE Select	NP_009225.1:p.Gly1738=
NM_007297.4:c.5073A>C	NP_009228.2:p.Gly1691=
NM_007299.4:c.1902A>C	NP_009230.2:p.Gly634=
NM_007300.4:c.5277A>C	NP_009231.2:p.Gly1759=
NR_027676.2:n.5391A>C