Canonical Allele Identifier: CA10590501

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867396
• ClinVar RCV Id: RCV001076075
• dbSNP Id: rs80356868
• MyVariant Identifiers: chr17:g.41199678C>T (hg19) ; chr17:g.43047661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047661C>T , CM000679.2:g.43047661C>T	GRCh38
NC_000017.10:g.41199678C>T , CM000679.1:g.41199678C>T	GRCh37
NC_000017.9:g.38453204C>T	NCBI36
NG_005905.2:g.170323G>A , LRG_292:g.170323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5446G>A	ENSP00000417241.2:p.Glu1816Lys
ENST00000470026.6:c.5449G>A	ENSP00000419274.2:p.Glu1817Lys
ENST00000473961.6:c.5323G>A	ENSP00000420201.2:p.Glu1775Lys
ENST00000476777.6:c.5443G>A	ENSP00000417554.2:p.Glu1815Lys
ENST00000477152.6:c.5371G>A	ENSP00000419988.2:p.Glu1791Lys
ENST00000478531.6:c.2137G>A	ENSP00000420412.2:p.Glu713Lys
ENST00000489037.2:c.5371G>A	ENSP00000420781.2:p.Glu1791Lys
ENST00000493919.6:c.1999G>A	ENSP00000418819.2:p.Glu667Lys
ENST00000494123.6:c.5449G>A	ENSP00000419103.2:p.Glu1817Lys
ENST00000497488.2:c.4561G>A	ENSP00000418986.2:p.Glu1521Lys
ENST00000618469.2:c.5449G>A	ENSP00000478114.2:p.Glu1817Lys
ENST00000634433.2:c.5326G>A	ENSP00000489431.2:p.Glu1776Lys
ENST00000644379.2:c.5515G>A	ENSP00000496570.2:p.Glu1839Lys
ENST00000644555.2:c.1999G>A	ENSP00000494614.2:p.Glu667Lys
ENST00000652672.2:c.5308G>A	ENSP00000498906.2:p.Glu1770Lys
ENST00000484087.6:c.2011G>A	ENSP00000419481.2:p.Glu671Lys
ENST00000700081.1:n.1332G>A
ENST00000700082.1:n.813G>A
ENST00000357654.9:c.5449G>A MANE Select	ENSP00000350283.3:p.Glu1817Lys
ENST00000471181.7:c.5512G>A	ENSP00000418960.2:p.Glu1838Lys
ENST00000644379.1:c.1836G>A
ENST00000352993.7:c.2023G>A	ENSP00000312236.5:p.Glu675Lys
ENST00000357654.7:c.5449G>A	ENSP00000350283.3:p.Glu1817Lys
ENST00000461221.5:c.*5232G>A	ENSP00000418548.1:n.*5232G>A
ENST00000468300.5:c.2063G>A	ENSP00000417148.1:p.Arg688Lys
ENST00000471181.6:c.5512G>A	ENSP00000418960.2:p.Glu1838Lys
ENST00000491747.6:c.2137G>A	ENSP00000420705.2:p.Glu713Lys
ENST00000493795.5:c.5308G>A	ENSP00000418775.1:p.Glu1770Lys
ENST00000586385.5:c.379G>A	ENSP00000465818.1:p.Glu127Lys
ENST00000591534.5:c.922G>A	ENSP00000467329.1:p.Glu308Lys
ENST00000591849.5:c.148G>A	ENSP00000465347.1:p.Glu50Lys
NM_007294.3:c.5449G>A , LRG_292t1:c.5449G>A	NP_009225.1:p.Glu1817Lys
NM_007297.3:c.5308G>A	NP_009228.2:p.Glu1770Lys
NM_007298.3:c.2137G>A	NP_009229.2:p.Glu713Lys
NM_007299.3:c.2063G>A	NP_009230.2:p.Arg688Lys
NM_007300.3:c.5512G>A	NP_009231.2:p.Glu1838Lys
NR_027676.1:n.5585G>A
NM_007294.4:c.5449G>A MANE Select	NP_009225.1:p.Glu1817Lys
NM_007297.4:c.5308G>A	NP_009228.2:p.Glu1770Lys
NM_007299.4:c.2063G>A	NP_009230.2:p.Arg688Lys
NM_007300.4:c.5512G>A	NP_009231.2:p.Glu1838Lys
NR_027676.2:n.5626G>A