Canonical Allele Identifier: CA500142868

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 924118
• ClinVar RCV Id: RCV001185289
• dbSNP Id: rs2050852399
• MyVariant Identifiers: chr17:g.41197696C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045679C>T , CM000679.2:g.43045679C>T	GRCh38
NC_000017.10:g.41197696C>T , CM000679.1:g.41197696C>T	GRCh37
NC_000017.9:g.38451222C>T	NCBI36
NG_005905.2:g.172305G>A , LRG_292:g.172305G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5588G>A	ENSP00000417241.2:p.Ter1863=
ENST00000470026.6:c.5591G>A	ENSP00000419274.2:p.Ter1864=
ENST00000473961.6:c.5465G>A	ENSP00000420201.2:p.Ter1822=
ENST00000476777.6:c.5585G>A	ENSP00000417554.2:p.Ter1862=
ENST00000477152.6:c.5513G>A	ENSP00000419988.2:p.Ter1838=
ENST00000478531.6:c.2279G>A	ENSP00000420412.2:p.Ter760=
ENST00000489037.2:c.5513G>A	ENSP00000420781.2:p.Ter1838=
ENST00000493919.6:c.2141G>A	ENSP00000418819.2:p.Ter714=
ENST00000494123.6:c.5591G>A	ENSP00000419103.2:p.Ter1864=
ENST00000497488.2:c.4703G>A	ENSP00000418986.2:p.Ter1568=
ENST00000618469.2:c.5591G>A	ENSP00000478114.2:p.Ter1864=
ENST00000634433.2:c.5468G>A	ENSP00000489431.2:p.Ter1823=
ENST00000644379.2:c.5657G>A	ENSP00000496570.2:p.Ter1886=
ENST00000644555.2:c.2141G>A	ENSP00000494614.2:p.Ter714=
ENST00000652672.2:c.5450G>A	ENSP00000498906.2:p.Ter1817=
ENST00000484087.6:c.2153G>A	ENSP00000419481.2:p.Ter718=
ENST00000700081.1:n.1474G>A
ENST00000700082.1:n.955G>A
ENST00000357654.9:c.5591G>A MANE Select	ENSP00000350283.3:p.Ter1864=
ENST00000471181.7:c.5654G>A	ENSP00000418960.2:p.Ter1885=
ENST00000644379.1:c.1978G>A
ENST00000352993.7:c.2165G>A	ENSP00000312236.5:p.Ter722=
ENST00000357654.7:c.5591G>A	ENSP00000350283.3:p.Ter1864=
ENST00000461221.5:c.*5374G>A	ENSP00000418548.1:n.*5374G>A
ENST00000468300.5:c.*105G>A	ENSP00000417148.1:n.*105G>A
ENST00000471181.6:c.5654G>A	ENSP00000418960.2:p.Ter1885=
ENST00000491747.6:c.2279G>A	ENSP00000420705.2:p.Ter760=
ENST00000493795.5:c.5450G>A	ENSP00000418775.1:p.Ter1817=
ENST00000586385.5:c.521G>A	ENSP00000465818.1:p.Ter174=
ENST00000591534.5:c.1064G>A	ENSP00000467329.1:p.Ter355=
ENST00000591849.5:c.290G>A	ENSP00000465347.1:p.Ter97=
NM_007294.3:c.5591G>A , LRG_292t1:c.5591G>A	NP_009225.1:p.Ter1864=
NM_007297.3:c.5450G>A	NP_009228.2:p.Ter1817=
NM_007298.3:c.2279G>A	NP_009229.2:p.Ter760=
NM_007299.3:c.*105G>A	NP_009230.2:n.*105G>A
NM_007300.3:c.5654G>A	NP_009231.2:p.Ter1885=
NR_027676.1:n.5727G>A
NM_007294.4:c.5591G>A MANE Select	NP_009225.1:p.Ter1864=
NM_007297.4:c.5450G>A	NP_009228.2:p.Ter1817=
NM_007299.4:c.*105G>A	NP_009230.2:n.*105G>A
NM_007300.4:c.5654G>A	NP_009231.2:p.Ter1885=
NR_027676.2:n.5768G>A