Canonical Allele Identifier: CA10590592

Gene: BRCA1

Linked Data

• dbSNP Id: rs1555574748
• MyVariant Identifiers: chr17:g.41199703C>A (hg19) ; chr17:g.43047686C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047686C>A , CM000679.2:g.43047686C>A	GRCh38
NC_000017.10:g.41199703C>A , CM000679.1:g.41199703C>A	GRCh37
NC_000017.9:g.38453229C>A	NCBI36
NG_005905.2:g.170298G>T , LRG_292:g.170298G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5421G>T	ENSP00000417241.2:p.Val1807=
ENST00000470026.6:c.5424G>T	ENSP00000419274.2:p.Val1808=
ENST00000473961.6:c.5298G>T	ENSP00000420201.2:p.Val1766=
ENST00000476777.6:c.5418G>T	ENSP00000417554.2:p.Val1806=
ENST00000477152.6:c.5346G>T	ENSP00000419988.2:p.Val1782=
ENST00000478531.6:c.2112G>T	ENSP00000420412.2:p.Val704=
ENST00000489037.2:c.5346G>T	ENSP00000420781.2:p.Val1782=
ENST00000493919.6:c.1974G>T	ENSP00000418819.2:p.Val658=
ENST00000494123.6:c.5424G>T	ENSP00000419103.2:p.Val1808=
ENST00000497488.2:c.4536G>T	ENSP00000418986.2:p.Val1512=
ENST00000618469.2:c.5424G>T	ENSP00000478114.2:p.Val1808=
ENST00000634433.2:c.5301G>T	ENSP00000489431.2:p.Val1767=
ENST00000644379.2:c.5490G>T	ENSP00000496570.2:p.Val1830=
ENST00000644555.2:c.1974G>T	ENSP00000494614.2:p.Val658=
ENST00000652672.2:c.5283G>T	ENSP00000498906.2:p.Val1761=
ENST00000484087.6:c.1986G>T	ENSP00000419481.2:p.Val662=
ENST00000700081.1:n.1307G>T
ENST00000700082.1:n.788G>T
ENST00000357654.9:c.5424G>T MANE Select	ENSP00000350283.3:p.Val1808=
ENST00000471181.7:c.5487G>T	ENSP00000418960.2:p.Val1829=
ENST00000644379.1:c.1811G>T
ENST00000352993.7:c.1998G>T	ENSP00000312236.5:p.Val666=
ENST00000357654.7:c.5424G>T	ENSP00000350283.3:p.Val1808=
ENST00000461221.5:c.*5207G>T	ENSP00000418548.1:n.*5207G>T
ENST00000468300.5:c.2038G>T	ENSP00000417148.1:p.Gly680Cys
ENST00000471181.6:c.5487G>T	ENSP00000418960.2:p.Val1829=
ENST00000491747.6:c.2112G>T	ENSP00000420705.2:p.Val704=
ENST00000493795.5:c.5283G>T	ENSP00000418775.1:p.Val1761=
ENST00000586385.5:c.354G>T	ENSP00000465818.1:p.Val118=
ENST00000591534.5:c.897G>T	ENSP00000467329.1:p.Val299=
ENST00000591849.5:c.123G>T	ENSP00000465347.1:p.Val41=
NM_007294.3:c.5424G>T , LRG_292t1:c.5424G>T	NP_009225.1:p.Val1808=
NM_007297.3:c.5283G>T	NP_009228.2:p.Val1761=
NM_007298.3:c.2112G>T	NP_009229.2:p.Val704=
NM_007299.3:c.2038G>T	NP_009230.2:p.Gly680Cys
NM_007300.3:c.5487G>T	NP_009231.2:p.Val1829=
NR_027676.1:n.5560G>T
NM_007294.4:c.5424G>T MANE Select	NP_009225.1:p.Val1808=
NM_007297.4:c.5283G>T	NP_009228.2:p.Val1761=
NM_007299.4:c.2038G>T	NP_009230.2:p.Gly680Cys
NM_007300.4:c.5487G>T	NP_009231.2:p.Val1829=
NR_027676.2:n.5601G>T