Canonical Allele Identifier: CA10593208

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154154906
• MyVariant Identifiers: chr17:g.41234521T>G (hg19) ; chr17:g.43082504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082504T>G , CM000679.2:g.43082504T>G	GRCh38
NC_000017.10:g.41234521T>G , CM000679.1:g.41234521T>G	GRCh37
NC_000017.9:g.38488047T>G	NCBI36
NG_005905.2:g.135480A>C , LRG_292:g.135480A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4257A>C	ENSP00000417241.2:p.Glu1419Asp
ENST00000470026.6:c.4257A>C	ENSP00000419274.2:p.Glu1419Asp
ENST00000473961.6:c.4131A>C	ENSP00000420201.2:p.Glu1377Asp
ENST00000476777.6:c.4251A>C	ENSP00000417554.2:p.Glu1417Asp
ENST00000477152.6:c.4179A>C	ENSP00000419988.2:p.Glu1393Asp
ENST00000478531.6:c.945A>C	ENSP00000420412.2:p.Glu315Asp
ENST00000489037.2:c.4179A>C	ENSP00000420781.2:p.Glu1393Asp
ENST00000493919.6:c.807A>C	ENSP00000418819.2:p.Glu269Asp
ENST00000494123.6:c.4257A>C	ENSP00000419103.2:p.Glu1419Asp
ENST00000497488.2:c.3369A>C	ENSP00000418986.2:p.Glu1123Asp
ENST00000618469.2:c.4257A>C	ENSP00000478114.2:p.Glu1419Asp
ENST00000634433.2:c.4134A>C	ENSP00000489431.2:p.Glu1378Asp
ENST00000644379.2:c.4257A>C	ENSP00000496570.2:p.Glu1419Asp
ENST00000644555.2:c.807A>C	ENSP00000494614.2:p.Glu269Asp
ENST00000652672.2:c.4116A>C	ENSP00000498906.2:p.Glu1372Asp
ENST00000484087.6:c.822A>C	ENSP00000419481.2:p.Glu274Asp
ENST00000700182.1:c.867A>C	ENSP00000514849.1:p.Glu289Asp
ENST00000357654.9:c.4257A>C MANE Select	ENSP00000350283.3:p.Glu1419Asp
ENST00000471181.7:c.4257A>C	ENSP00000418960.2:p.Glu1419Asp
ENST00000644379.1:c.578A>C
ENST00000352993.7:c.831A>C	ENSP00000312236.5:p.Glu277Asp
ENST00000357654.7:c.4257A>C	ENSP00000350283.3:p.Glu1419Asp
ENST00000461221.5:c.*4040A>C	ENSP00000418548.1:n.*4040A>C
ENST00000461574.1:c.551A>C
ENST00000468300.5:c.948A>C	ENSP00000417148.1:p.Glu316Asp
ENST00000471181.6:c.4257A>C	ENSP00000418960.2:p.Glu1419Asp
ENST00000478531.5:c.945A>C	ENSP00000420412.1:p.Glu315Asp
ENST00000484087.5:c.570A>C	ENSP00000419481.1:p.Glu190Asp
ENST00000487825.5:c.573A>C	ENSP00000418212.1:p.Glu191Asp
ENST00000491747.6:c.948A>C	ENSP00000420705.2:p.Glu316Asp
ENST00000493795.5:c.4116A>C	ENSP00000418775.1:p.Glu1372Asp
ENST00000493919.5:c.807A>C	ENSP00000418819.1:p.Glu269Asp
ENST00000586385.5:c.5-18553A>C	ENSP00000465818.1:n.5-18553A>C
ENST00000591534.5:c.-43-7983A>C	ENSP00000467329.1:n.-43-7983A>C
ENST00000591849.5:c.-98-32314A>C	ENSP00000465347.1:n.-98-32314A>C
ENST00000621897.1:n.151A>C
NM_007294.3:c.4257A>C , LRG_292t1:c.4257A>C	NP_009225.1:p.Glu1419Asp
NM_007297.3:c.4116A>C	NP_009228.2:p.Glu1372Asp
NM_007298.3:c.948A>C	NP_009229.2:p.Glu316Asp
NM_007299.3:c.948A>C	NP_009230.2:p.Glu316Asp
NM_007300.3:c.4257A>C	NP_009231.2:p.Glu1419Asp
NR_027676.1:n.4393A>C
NM_007294.4:c.4257A>C MANE Select	NP_009225.1:p.Glu1419Asp
NM_007297.4:c.4116A>C	NP_009228.2:p.Glu1372Asp
NM_007299.4:c.948A>C	NP_009230.2:p.Glu316Asp
NM_007300.4:c.4257A>C	NP_009231.2:p.Glu1419Asp
NR_027676.2:n.4434A>C