Canonical Allele Identifier: CA10590497

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867398
• ClinVar RCV Id: RCV001076077
• dbSNP Id: rs2050981907
• MyVariant Identifiers: chr17:g.41199677T>G (hg19) ; chr17:g.43047660T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047660T>G , CM000679.2:g.43047660T>G	GRCh38
NC_000017.10:g.41199677T>G , CM000679.1:g.41199677T>G	GRCh37
NC_000017.9:g.38453203T>G	NCBI36
NG_005905.2:g.170324A>C , LRG_292:g.170324A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5447A>C	ENSP00000417241.2:p.Glu1816Ala
ENST00000470026.6:c.5450A>C	ENSP00000419274.2:p.Glu1817Ala
ENST00000473961.6:c.5324A>C	ENSP00000420201.2:p.Glu1775Ala
ENST00000476777.6:c.5444A>C	ENSP00000417554.2:p.Glu1815Ala
ENST00000477152.6:c.5372A>C	ENSP00000419988.2:p.Glu1791Ala
ENST00000478531.6:c.2138A>C	ENSP00000420412.2:p.Glu713Ala
ENST00000489037.2:c.5372A>C	ENSP00000420781.2:p.Glu1791Ala
ENST00000493919.6:c.2000A>C	ENSP00000418819.2:p.Glu667Ala
ENST00000494123.6:c.5450A>C	ENSP00000419103.2:p.Glu1817Ala
ENST00000497488.2:c.4562A>C	ENSP00000418986.2:p.Glu1521Ala
ENST00000618469.2:c.5450A>C	ENSP00000478114.2:p.Glu1817Ala
ENST00000634433.2:c.5327A>C	ENSP00000489431.2:p.Glu1776Ala
ENST00000644379.2:c.5516A>C	ENSP00000496570.2:p.Glu1839Ala
ENST00000644555.2:c.2000A>C	ENSP00000494614.2:p.Glu667Ala
ENST00000652672.2:c.5309A>C	ENSP00000498906.2:p.Glu1770Ala
ENST00000484087.6:c.2012A>C	ENSP00000419481.2:p.Glu671Ala
ENST00000700081.1:n.1333A>C
ENST00000700082.1:n.814A>C
ENST00000357654.9:c.5450A>C MANE Select	ENSP00000350283.3:p.Glu1817Ala
ENST00000471181.7:c.5513A>C	ENSP00000418960.2:p.Glu1838Ala
ENST00000644379.1:c.1837A>C
ENST00000352993.7:c.2024A>C	ENSP00000312236.5:p.Glu675Ala
ENST00000357654.7:c.5450A>C	ENSP00000350283.3:p.Glu1817Ala
ENST00000461221.5:c.*5233A>C	ENSP00000418548.1:n.*5233A>C
ENST00000468300.5:c.2064A>C	ENSP00000417148.1:p.Arg688Ser
ENST00000471181.6:c.5513A>C	ENSP00000418960.2:p.Glu1838Ala
ENST00000491747.6:c.2138A>C	ENSP00000420705.2:p.Glu713Ala
ENST00000493795.5:c.5309A>C	ENSP00000418775.1:p.Glu1770Ala
ENST00000586385.5:c.380A>C	ENSP00000465818.1:p.Glu127Ala
ENST00000591534.5:c.923A>C	ENSP00000467329.1:p.Glu308Ala
ENST00000591849.5:c.149A>C	ENSP00000465347.1:p.Glu50Ala
NM_007294.3:c.5450A>C , LRG_292t1:c.5450A>C	NP_009225.1:p.Glu1817Ala
NM_007297.3:c.5309A>C	NP_009228.2:p.Glu1770Ala
NM_007298.3:c.2138A>C	NP_009229.2:p.Glu713Ala
NM_007299.3:c.2064A>C	NP_009230.2:p.Arg688Ser
NM_007300.3:c.5513A>C	NP_009231.2:p.Glu1838Ala
NR_027676.1:n.5586A>C
NM_007294.4:c.5450A>C MANE Select	NP_009225.1:p.Glu1817Ala
NM_007297.4:c.5309A>C	NP_009228.2:p.Glu1770Ala
NM_007299.4:c.2064A>C	NP_009230.2:p.Arg688Ser
NM_007300.4:c.5513A>C	NP_009231.2:p.Glu1838Ala
NR_027676.2:n.5627A>C