Canonical Allele Identifier: CA10592414

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41226473A>C (hg19) ; chr17:g.43074456A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074456A>C , CM000679.2:g.43074456A>C	GRCh38
NC_000017.10:g.41226473A>C , CM000679.1:g.41226473A>C	GRCh37
NC_000017.9:g.38479999A>C	NCBI36
NG_005905.2:g.143528T>G , LRG_292:g.143528T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4547T>G	ENSP00000417241.2:p.Leu1516Arg
ENST00000470026.6:c.4550T>G	ENSP00000419274.2:p.Leu1517Arg
ENST00000473961.6:c.4424T>G	ENSP00000420201.2:p.Leu1475Arg
ENST00000476777.6:c.4544T>G	ENSP00000417554.2:p.Leu1515Arg
ENST00000477152.6:c.4472T>G	ENSP00000419988.2:p.Leu1491Arg
ENST00000478531.6:c.1238T>G	ENSP00000420412.2:p.Leu413Arg
ENST00000489037.2:c.4472T>G	ENSP00000420781.2:p.Leu1491Arg
ENST00000493919.6:c.1100T>G	ENSP00000418819.2:p.Leu367Arg
ENST00000494123.6:c.4550T>G	ENSP00000419103.2:p.Leu1517Arg
ENST00000497488.2:c.3662T>G	ENSP00000418986.2:p.Leu1221Arg
ENST00000618469.2:c.4550T>G	ENSP00000478114.2:p.Leu1517Arg
ENST00000634433.2:c.4427T>G	ENSP00000489431.2:p.Leu1476Arg
ENST00000644379.2:c.4616T>G	ENSP00000496570.2:p.Leu1539Arg
ENST00000644555.2:c.1100T>G	ENSP00000494614.2:p.Leu367Arg
ENST00000652672.2:c.4409T>G	ENSP00000498906.2:p.Leu1470Arg
ENST00000484087.6:c.1112T>G	ENSP00000419481.2:p.Leu371Arg
ENST00000700182.1:c.1157T>G	ENSP00000514849.1:p.Leu386Arg
ENST00000357654.9:c.4550T>G MANE Select	ENSP00000350283.3:p.Leu1517Arg
ENST00000471181.7:c.4613T>G	ENSP00000418960.2:p.Leu1538Arg
ENST00000644379.1:c.937T>G
ENST00000352993.7:c.1124T>G	ENSP00000312236.5:p.Leu375Arg
ENST00000357654.7:c.4550T>G	ENSP00000350283.3:p.Leu1517Arg
ENST00000461221.5:c.*4333T>G	ENSP00000418548.1:n.*4333T>G
ENST00000468300.5:c.1238T>G	ENSP00000417148.1:p.Leu413Arg
ENST00000471181.6:c.4613T>G	ENSP00000418960.2:p.Leu1538Arg
ENST00000478531.5:c.1238T>G	ENSP00000420412.1:p.Leu413Arg
ENST00000484087.5:c.863T>G	ENSP00000419481.1:p.Leu288Arg
ENST00000491747.6:c.1238T>G	ENSP00000420705.2:p.Leu413Arg
ENST00000493795.5:c.4409T>G	ENSP00000418775.1:p.Leu1470Arg
ENST00000493919.5:c.1100T>G	ENSP00000418819.1:p.Leu367Arg
ENST00000586385.5:c.5-10505T>G	ENSP00000465818.1:n.5-10505T>G
ENST00000591534.5:c.23T>G	ENSP00000467329.1:p.Leu8Arg
ENST00000591849.5:c.-98-24266T>G	ENSP00000465347.1:n.-98-24266T>G
NM_007294.3:c.4550T>G , LRG_292t1:c.4550T>G	NP_009225.1:p.Leu1517Arg
NM_007297.3:c.4409T>G	NP_009228.2:p.Leu1470Arg
NM_007298.3:c.1238T>G	NP_009229.2:p.Leu413Arg
NM_007299.3:c.1238T>G	NP_009230.2:p.Leu413Arg
NM_007300.3:c.4613T>G	NP_009231.2:p.Leu1538Arg
NR_027676.1:n.4686T>G
NM_007294.4:c.4550T>G MANE Select	NP_009225.1:p.Leu1517Arg
NM_007297.4:c.4409T>G	NP_009228.2:p.Leu1470Arg
NM_007299.4:c.1238T>G	NP_009230.2:p.Leu413Arg
NM_007300.4:c.4613T>G	NP_009231.2:p.Leu1538Arg
NR_027676.2:n.4727T>G