Canonical Allele Identifier: CA10590489

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865531
• ClinVar RCV Id: RCV001072970
• dbSNP Id: rs1057523707
• MyVariant Identifiers: chr17:g.41199676C>A (hg19) ; chr17:g.43047659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047659C>A , CM000679.2:g.43047659C>A	GRCh38
NC_000017.10:g.41199676C>A , CM000679.1:g.41199676C>A	GRCh37
NC_000017.9:g.38453202C>A	NCBI36
NG_005905.2:g.170325G>T , LRG_292:g.170325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5448G>T	ENSP00000417241.2:p.Glu1816Asp
ENST00000470026.6:c.5451G>T	ENSP00000419274.2:p.Glu1817Asp
ENST00000473961.6:c.5325G>T	ENSP00000420201.2:p.Glu1775Asp
ENST00000476777.6:c.5445G>T	ENSP00000417554.2:p.Glu1815Asp
ENST00000477152.6:c.5373G>T	ENSP00000419988.2:p.Glu1791Asp
ENST00000478531.6:c.2139G>T	ENSP00000420412.2:p.Glu713Asp
ENST00000489037.2:c.5373G>T	ENSP00000420781.2:p.Glu1791Asp
ENST00000493919.6:c.2001G>T	ENSP00000418819.2:p.Glu667Asp
ENST00000494123.6:c.5451G>T	ENSP00000419103.2:p.Glu1817Asp
ENST00000497488.2:c.4563G>T	ENSP00000418986.2:p.Glu1521Asp
ENST00000618469.2:c.5451G>T	ENSP00000478114.2:p.Glu1817Asp
ENST00000634433.2:c.5328G>T	ENSP00000489431.2:p.Glu1776Asp
ENST00000644379.2:c.5517G>T	ENSP00000496570.2:p.Glu1839Asp
ENST00000644555.2:c.2001G>T	ENSP00000494614.2:p.Glu667Asp
ENST00000652672.2:c.5310G>T	ENSP00000498906.2:p.Glu1770Asp
ENST00000484087.6:c.2013G>T	ENSP00000419481.2:p.Glu671Asp
ENST00000700081.1:n.1334G>T
ENST00000700082.1:n.815G>T
ENST00000357654.9:c.5451G>T MANE Select	ENSP00000350283.3:p.Glu1817Asp
ENST00000471181.7:c.5514G>T	ENSP00000418960.2:p.Glu1838Asp
ENST00000644379.1:c.1838G>T
ENST00000352993.7:c.2025G>T	ENSP00000312236.5:p.Glu675Asp
ENST00000357654.7:c.5451G>T	ENSP00000350283.3:p.Glu1817Asp
ENST00000461221.5:c.*5234G>T	ENSP00000418548.1:n.*5234G>T
ENST00000468300.5:c.2065G>T	ENSP00000417148.1:p.Gly689Ter
ENST00000471181.6:c.5514G>T	ENSP00000418960.2:p.Glu1838Asp
ENST00000491747.6:c.2139G>T	ENSP00000420705.2:p.Glu713Asp
ENST00000493795.5:c.5310G>T	ENSP00000418775.1:p.Glu1770Asp
ENST00000586385.5:c.381G>T	ENSP00000465818.1:p.Glu127Asp
ENST00000591534.5:c.924G>T	ENSP00000467329.1:p.Glu308Asp
ENST00000591849.5:c.150G>T	ENSP00000465347.1:p.Glu50Asp
NM_007294.3:c.5451G>T , LRG_292t1:c.5451G>T	NP_009225.1:p.Glu1817Asp
NM_007297.3:c.5310G>T	NP_009228.2:p.Glu1770Asp
NM_007298.3:c.2139G>T	NP_009229.2:p.Glu713Asp
NM_007299.3:c.2065G>T	NP_009230.2:p.Gly689Ter
NM_007300.3:c.5514G>T	NP_009231.2:p.Glu1838Asp
NR_027676.1:n.5587G>T
NM_007294.4:c.5451G>T MANE Select	NP_009225.1:p.Glu1817Asp
NM_007297.4:c.5310G>T	NP_009228.2:p.Glu1770Asp
NM_007299.4:c.2065G>T	NP_009230.2:p.Gly689Ter
NM_007300.4:c.5514G>T	NP_009231.2:p.Glu1838Asp
NR_027676.2:n.5628G>T