Canonical Allele Identifier: CA10590476

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 489734
• ClinVar RCV Id: RCV000579674 ; RCV000985442 ; RCV001077422 ; RCV001171389
• dbSNP Id: rs1555574705
• MyVariant Identifiers: chr17:g.41199673G>A (hg19) ; chr17:g.43047656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047656G>A , CM000679.2:g.43047656G>A	GRCh38
NC_000017.10:g.41199673G>A , CM000679.1:g.41199673G>A	GRCh37
NC_000017.9:g.38453199G>A	NCBI36
NG_005905.2:g.170328C>T , LRG_292:g.170328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5451C>T	ENSP00000417241.2:p.Asp1817=
ENST00000470026.6:c.5454C>T	ENSP00000419274.2:p.Asp1818=
ENST00000473961.6:c.5328C>T	ENSP00000420201.2:p.Asp1776=
ENST00000476777.6:c.5448C>T	ENSP00000417554.2:p.Asp1816=
ENST00000477152.6:c.5376C>T	ENSP00000419988.2:p.Asp1792=
ENST00000478531.6:c.2142C>T	ENSP00000420412.2:p.Asp714=
ENST00000489037.2:c.5376C>T	ENSP00000420781.2:p.Asp1792=
ENST00000493919.6:c.2004C>T	ENSP00000418819.2:p.Asp668=
ENST00000494123.6:c.5454C>T	ENSP00000419103.2:p.Asp1818=
ENST00000497488.2:c.4566C>T	ENSP00000418986.2:p.Asp1522=
ENST00000618469.2:c.5454C>T	ENSP00000478114.2:p.Asp1818=
ENST00000634433.2:c.5331C>T	ENSP00000489431.2:p.Asp1777=
ENST00000644379.2:c.5520C>T	ENSP00000496570.2:p.Asp1840=
ENST00000644555.2:c.2004C>T	ENSP00000494614.2:p.Asp668=
ENST00000652672.2:c.5313C>T	ENSP00000498906.2:p.Asp1771=
ENST00000484087.6:c.2016C>T	ENSP00000419481.2:p.Asp672=
ENST00000700081.1:n.1337C>T
ENST00000700082.1:n.818C>T
ENST00000357654.9:c.5454C>T MANE Select	ENSP00000350283.3:p.Asp1818=
ENST00000471181.7:c.5517C>T	ENSP00000418960.2:p.Asp1839=
ENST00000644379.1:c.1841C>T
ENST00000352993.7:c.2028C>T	ENSP00000312236.5:p.Asp676=
ENST00000357654.7:c.5454C>T	ENSP00000350283.3:p.Asp1818=
ENST00000461221.5:c.*5237C>T	ENSP00000418548.1:n.*5237C>T
ENST00000468300.5:c.2068C>T	ENSP00000417148.1:p.Gln690Ter
ENST00000471181.6:c.5517C>T	ENSP00000418960.2:p.Asp1839=
ENST00000491747.6:c.2142C>T	ENSP00000420705.2:p.Asp714=
ENST00000493795.5:c.5313C>T	ENSP00000418775.1:p.Asp1771=
ENST00000586385.5:c.384C>T	ENSP00000465818.1:p.Asp128=
ENST00000591534.5:c.927C>T	ENSP00000467329.1:p.Asp309=
ENST00000591849.5:c.153C>T	ENSP00000465347.1:p.Asp51=
NM_007294.3:c.5454C>T , LRG_292t1:c.5454C>T	NP_009225.1:p.Asp1818=
NM_007297.3:c.5313C>T	NP_009228.2:p.Asp1771=
NM_007298.3:c.2142C>T	NP_009229.2:p.Asp714=
NM_007299.3:c.2068C>T	NP_009230.2:p.Gln690Ter
NM_007300.3:c.5517C>T	NP_009231.2:p.Asp1839=
NR_027676.1:n.5590C>T
NM_007294.4:c.5454C>T MANE Select	NP_009225.1:p.Asp1818=
NM_007297.4:c.5313C>T	NP_009228.2:p.Asp1771=
NM_007299.4:c.2068C>T	NP_009230.2:p.Gln690Ter
NM_007300.4:c.5517C>T	NP_009231.2:p.Asp1839=
NR_027676.2:n.5631C>T