Canonical Allele Identifier: CA10590379

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 381060
• ClinVar RCV Id: RCV000423932 ; RCV002064964 ; RCV001077496 ; RCV002348174
• dbSNP Id: rs1057520941
• MyVariant Identifiers: chr17:g.41197812C>T (hg19) ; chr17:g.43045795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045795C>T , CM000679.2:g.43045795C>T	GRCh38
NC_000017.10:g.41197812C>T , CM000679.1:g.41197812C>T	GRCh37
NC_000017.9:g.38451338C>T	NCBI36
NG_005905.2:g.172189G>A , LRG_292:g.172189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5472G>A	ENSP00000417241.2:p.Gly1824=
ENST00000470026.6:c.5475G>A	ENSP00000419274.2:p.Gly1825=
ENST00000473961.6:c.5349G>A	ENSP00000420201.2:p.Gly1783=
ENST00000476777.6:c.5469G>A	ENSP00000417554.2:p.Gly1823=
ENST00000477152.6:c.5397G>A	ENSP00000419988.2:p.Gly1799=
ENST00000478531.6:c.2163G>A	ENSP00000420412.2:p.Gly721=
ENST00000489037.2:c.5397G>A	ENSP00000420781.2:p.Gly1799=
ENST00000493919.6:c.2025G>A	ENSP00000418819.2:p.Gly675=
ENST00000494123.6:c.5475G>A	ENSP00000419103.2:p.Gly1825=
ENST00000497488.2:c.4587G>A	ENSP00000418986.2:p.Gly1529=
ENST00000618469.2:c.5475G>A	ENSP00000478114.2:p.Gly1825=
ENST00000634433.2:c.5352G>A	ENSP00000489431.2:p.Gly1784=
ENST00000644379.2:c.5541G>A	ENSP00000496570.2:p.Gly1847=
ENST00000644555.2:c.2025G>A	ENSP00000494614.2:p.Gly675=
ENST00000652672.2:c.5334G>A	ENSP00000498906.2:p.Gly1778=
ENST00000484087.6:c.2037G>A	ENSP00000419481.2:p.Gly679=
ENST00000700081.1:n.1358G>A
ENST00000700082.1:n.839G>A
ENST00000357654.9:c.5475G>A MANE Select	ENSP00000350283.3:p.Gly1825=
ENST00000471181.7:c.5538G>A	ENSP00000418960.2:p.Gly1846=
ENST00000644379.1:c.1862G>A
ENST00000352993.7:c.2049G>A	ENSP00000312236.5:p.Gly683=
ENST00000357654.7:c.5475G>A	ENSP00000350283.3:p.Gly1825=
ENST00000461221.5:c.*5258G>A	ENSP00000418548.1:n.*5258G>A
ENST00000468300.5:c.2089G>A	ENSP00000417148.1:p.Ala697Thr
ENST00000471181.6:c.5538G>A	ENSP00000418960.2:p.Gly1846=
ENST00000491747.6:c.2163G>A	ENSP00000420705.2:p.Gly721=
ENST00000493795.5:c.5334G>A	ENSP00000418775.1:p.Gly1778=
ENST00000586385.5:c.405G>A	ENSP00000465818.1:p.Gly135=
ENST00000591534.5:c.948G>A	ENSP00000467329.1:p.Gly316=
ENST00000591849.5:c.174G>A	ENSP00000465347.1:p.Gly58=
NM_007294.3:c.5475G>A , LRG_292t1:c.5475G>A	NP_009225.1:p.Gly1825=
NM_007297.3:c.5334G>A	NP_009228.2:p.Gly1778=
NM_007298.3:c.2163G>A	NP_009229.2:p.Gly721=
NM_007299.3:c.2089G>A	NP_009230.2:p.Ala697Thr
NM_007300.3:c.5538G>A	NP_009231.2:p.Gly1846=
NR_027676.1:n.5611G>A
NM_007294.4:c.5475G>A MANE Select	NP_009225.1:p.Gly1825=
NM_007297.4:c.5334G>A	NP_009228.2:p.Gly1778=
NM_007299.4:c.2089G>A	NP_009230.2:p.Ala697Thr
NM_007300.4:c.5538G>A	NP_009231.2:p.Gly1846=
NR_027676.2:n.5652G>A