Canonical Allele Identifier: CA500146564

Gene: BRCA1

Linked Data

• dbSNP Id: rs1597836010
• MyVariant Identifiers: chr17:g.41226406C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074389C>G , CM000679.2:g.43074389C>G	GRCh38
NC_000017.10:g.41226406C>G , CM000679.1:g.41226406C>G	GRCh37
NC_000017.9:g.38479932C>G	NCBI36
NG_005905.2:g.143595G>C , LRG_292:g.143595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4614G>C	ENSP00000417241.2:p.Leu1538=
ENST00000470026.6:c.4617G>C	ENSP00000419274.2:p.Leu1539=
ENST00000473961.6:c.4491G>C	ENSP00000420201.2:p.Leu1497=
ENST00000476777.6:c.4611G>C	ENSP00000417554.2:p.Leu1537=
ENST00000477152.6:c.4539G>C	ENSP00000419988.2:p.Leu1513=
ENST00000478531.6:c.1305G>C	ENSP00000420412.2:p.Leu435=
ENST00000489037.2:c.4539G>C	ENSP00000420781.2:p.Leu1513=
ENST00000493919.6:c.1167G>C	ENSP00000418819.2:p.Leu389=
ENST00000494123.6:c.4617G>C	ENSP00000419103.2:p.Leu1539=
ENST00000497488.2:c.3729G>C	ENSP00000418986.2:p.Leu1243=
ENST00000618469.2:c.4617G>C	ENSP00000478114.2:p.Leu1539=
ENST00000634433.2:c.4494G>C	ENSP00000489431.2:p.Leu1498=
ENST00000644379.2:c.4683G>C	ENSP00000496570.2:p.Leu1561=
ENST00000644555.2:c.1167G>C	ENSP00000494614.2:p.Leu389=
ENST00000652672.2:c.4476G>C	ENSP00000498906.2:p.Leu1492=
ENST00000484087.6:c.1179G>C	ENSP00000419481.2:p.Leu393=
ENST00000700182.1:c.1224G>C	ENSP00000514849.1:p.Leu408=
ENST00000357654.9:c.4617G>C MANE Select	ENSP00000350283.3:p.Leu1539=
ENST00000471181.7:c.4680G>C	ENSP00000418960.2:p.Leu1560=
ENST00000644379.1:c.1004G>C
ENST00000352993.7:c.1191G>C	ENSP00000312236.5:p.Leu397=
ENST00000357654.7:c.4617G>C	ENSP00000350283.3:p.Leu1539=
ENST00000461221.5:c.*4400G>C	ENSP00000418548.1:n.*4400G>C
ENST00000468300.5:c.1305G>C	ENSP00000417148.1:p.Leu435=
ENST00000471181.6:c.4680G>C	ENSP00000418960.2:p.Leu1560=
ENST00000478531.5:c.1305G>C	ENSP00000420412.1:p.Leu435=
ENST00000484087.5:c.930G>C	ENSP00000419481.1:p.Leu310=
ENST00000491747.6:c.1305G>C	ENSP00000420705.2:p.Leu435=
ENST00000493795.5:c.4476G>C	ENSP00000418775.1:p.Leu1492=
ENST00000493919.5:c.1167G>C	ENSP00000418819.1:p.Leu389=
ENST00000586385.5:c.5-10438G>C	ENSP00000465818.1:n.5-10438G>C
ENST00000591534.5:c.90G>C	ENSP00000467329.1:p.Leu30=
ENST00000591849.5:c.-98-24199G>C	ENSP00000465347.1:n.-98-24199G>C
NM_007294.3:c.4617G>C , LRG_292t1:c.4617G>C	NP_009225.1:p.Leu1539=
NM_007297.3:c.4476G>C	NP_009228.2:p.Leu1492=
NM_007298.3:c.1305G>C	NP_009229.2:p.Leu435=
NM_007299.3:c.1305G>C	NP_009230.2:p.Leu435=
NM_007300.3:c.4680G>C	NP_009231.2:p.Leu1560=
NR_027676.1:n.4753G>C
NM_007294.4:c.4617G>C MANE Select	NP_009225.1:p.Leu1539=
NM_007297.4:c.4476G>C	NP_009228.2:p.Leu1492=
NM_007299.4:c.1305G>C	NP_009230.2:p.Leu435=
NM_007300.4:c.4680G>C	NP_009231.2:p.Leu1560=
NR_027676.2:n.4794G>C