Canonical Allele Identifier: CA10591892

Gene: BRCA1

Linked Data

• dbSNP Id: rs1060504589
• MyVariant Identifiers: chr17:g.41223116C>G (hg19) ; chr17:g.43071099C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071099C>G , CM000679.2:g.43071099C>G	GRCh38
NC_000017.10:g.41223116C>G , CM000679.1:g.41223116C>G	GRCh37
NC_000017.9:g.38476642C>G	NCBI36
NG_005905.2:g.146885G>C , LRG_292:g.146885G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4812G>C	ENSP00000417241.2:p.Leu1604Phe
ENST00000470026.6:c.4815G>C	ENSP00000419274.2:p.Leu1605Phe
ENST00000473961.6:c.4689G>C	ENSP00000420201.2:p.Leu1563Phe
ENST00000476777.6:c.4809G>C	ENSP00000417554.2:p.Leu1603Phe
ENST00000477152.6:c.4737G>C	ENSP00000419988.2:p.Leu1579Phe
ENST00000478531.6:c.1503G>C	ENSP00000420412.2:p.Leu501Phe
ENST00000489037.2:c.4737G>C	ENSP00000420781.2:p.Leu1579Phe
ENST00000493919.6:c.1365G>C	ENSP00000418819.2:p.Leu455Phe
ENST00000494123.6:c.4815G>C	ENSP00000419103.2:p.Leu1605Phe
ENST00000497488.2:c.3927G>C	ENSP00000418986.2:p.Leu1309Phe
ENST00000618469.2:c.4815G>C	ENSP00000478114.2:p.Leu1605Phe
ENST00000634433.2:c.4692G>C	ENSP00000489431.2:p.Leu1564Phe
ENST00000644379.2:c.4881G>C	ENSP00000496570.2:p.Leu1627Phe
ENST00000644555.2:c.1365G>C	ENSP00000494614.2:p.Leu455Phe
ENST00000652672.2:c.4674G>C	ENSP00000498906.2:p.Leu1558Phe
ENST00000484087.6:c.1377G>C	ENSP00000419481.2:p.Leu459Phe
ENST00000700182.1:c.1422G>C	ENSP00000514849.1:p.Leu474Phe
ENST00000357654.9:c.4815G>C MANE Select	ENSP00000350283.3:p.Leu1605Phe
ENST00000471181.7:c.4878G>C	ENSP00000418960.2:p.Leu1626Phe
ENST00000644379.1:c.1202G>C
ENST00000352993.7:c.1389G>C	ENSP00000312236.5:p.Leu463Phe
ENST00000357654.7:c.4815G>C	ENSP00000350283.3:p.Leu1605Phe
ENST00000461221.5:c.*4598G>C	ENSP00000418548.1:n.*4598G>C
ENST00000468300.5:c.1503G>C	ENSP00000417148.1:p.Leu501Phe
ENST00000471181.6:c.4878G>C	ENSP00000418960.2:p.Leu1626Phe
ENST00000478531.5:c.1503G>C	ENSP00000420412.1:p.Leu501Phe
ENST00000484087.5:c.1128G>C	ENSP00000419481.1:p.Leu376Phe
ENST00000491747.6:c.1503G>C	ENSP00000420705.2:p.Leu501Phe
ENST00000493795.5:c.4674G>C	ENSP00000418775.1:p.Leu1558Phe
ENST00000493919.5:c.1365G>C	ENSP00000418819.1:p.Leu455Phe
ENST00000586385.5:c.5-7148G>C	ENSP00000465818.1:n.5-7148G>C
ENST00000591534.5:c.288G>C	ENSP00000467329.1:p.Leu96Phe
ENST00000591849.5:c.-98-20909G>C	ENSP00000465347.1:n.-98-20909G>C
NM_007294.3:c.4815G>C , LRG_292t1:c.4815G>C	NP_009225.1:p.Leu1605Phe
NM_007297.3:c.4674G>C	NP_009228.2:p.Leu1558Phe
NM_007298.3:c.1503G>C	NP_009229.2:p.Leu501Phe
NM_007299.3:c.1503G>C	NP_009230.2:p.Leu501Phe
NM_007300.3:c.4878G>C	NP_009231.2:p.Leu1626Phe
NR_027676.1:n.4951G>C
NM_007294.4:c.4815G>C MANE Select	NP_009225.1:p.Leu1605Phe
NM_007297.4:c.4674G>C	NP_009228.2:p.Leu1558Phe
NM_007299.4:c.1503G>C	NP_009230.2:p.Leu501Phe
NM_007300.4:c.4878G>C	NP_009231.2:p.Leu1626Phe
NR_027676.2:n.4992G>C