Canonical Allele Identifier: CA500233518

Gene: BRCA1

Linked Data

• dbSNP Id: rs786201338
• MyVariant Identifiers: chr17:g.41246792A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094775A>C , CM000679.2:g.43094775A>C	GRCh38
NC_000017.10:g.41246792A>C , CM000679.1:g.41246792A>C	GRCh37
NC_000017.9:g.38500318A>C	NCBI36
NG_005905.2:g.123209T>G , LRG_292:g.123209T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.820T>G
ENST00000461574.2:c.756T>G	ENSP00000417241.2:p.Arg252=
ENST00000470026.6:c.756T>G	ENSP00000419274.2:p.Arg252=
ENST00000473961.6:c.630T>G	ENSP00000420201.2:p.Arg210=
ENST00000476777.6:c.753T>G	ENSP00000417554.2:p.Arg251=
ENST00000477152.6:c.678T>G	ENSP00000419988.2:p.Arg226=
ENST00000478531.6:c.753T>G	ENSP00000420412.2:p.Arg251=
ENST00000489037.2:c.678T>G	ENSP00000420781.2:p.Arg226=
ENST00000493919.6:c.615T>G	ENSP00000418819.2:p.Arg205=
ENST00000494123.6:c.756T>G	ENSP00000419103.2:p.Arg252=
ENST00000497488.2:c.-133T>G	ENSP00000418986.2:n.-133T>G
ENST00000618469.2:c.756T>G	ENSP00000478114.2:p.Arg252=
ENST00000634433.2:c.633T>G	ENSP00000489431.2:p.Arg211=
ENST00000644379.2:c.756T>G	ENSP00000496570.2:p.Arg252=
ENST00000644555.2:c.615T>G	ENSP00000494614.2:p.Arg205=
ENST00000652672.2:c.615T>G	ENSP00000498906.2:p.Arg205=
ENST00000484087.6:c.633T>G	ENSP00000419481.2:p.Arg211=
ENST00000700182.1:c.675T>G	ENSP00000514849.1:p.Arg225=
ENST00000700183.1:c.*764T>G	ENSP00000514850.1:n.*764T>G
ENST00000357654.9:c.756T>G MANE Select	ENSP00000350283.3:p.Arg252=
ENST00000471181.7:c.756T>G	ENSP00000418960.2:p.Arg252=
ENST00000642945.1:c.*630T>G	ENSP00000495897.1:n.*630T>G
ENST00000652672.1:c.615T>G	ENSP00000498906.1:p.Arg205=
ENST00000352993.7:c.670+1071T>G	ENSP00000312236.5:n.670+1071T>G
ENST00000354071.7:c.756T>G	ENSP00000326002.7:p.Arg252=
ENST00000357654.7:c.756T>G	ENSP00000350283.3:p.Arg252=
ENST00000412061.3:c.107T>G
ENST00000461221.5:c.*539T>G	ENSP00000418548.1:n.*539T>G
ENST00000468300.5:c.756T>G	ENSP00000417148.1:p.Arg252=
ENST00000470026.5:c.756T>G	ENSP00000419274.1:p.Arg252=
ENST00000471181.6:c.756T>G	ENSP00000418960.2:p.Arg252=
ENST00000473961.5:c.353T>G
ENST00000477152.5:c.678T>G	ENSP00000419988.1:p.Arg226=
ENST00000478531.5:c.753T>G	ENSP00000420412.1:p.Arg251=
ENST00000484087.5:c.378T>G	ENSP00000419481.1:p.Arg126=
ENST00000487825.5:c.381T>G	ENSP00000418212.1:p.Arg127=
ENST00000491747.6:c.756T>G	ENSP00000420705.2:p.Arg252=
ENST00000492859.5:c.*692T>G	ENSP00000420253.1:n.*692T>G
ENST00000493795.5:c.615T>G	ENSP00000418775.1:p.Arg205=
ENST00000493919.5:c.615T>G	ENSP00000418819.1:p.Arg205=
ENST00000494123.5:c.756T>G	ENSP00000419103.1:p.Arg252=
ENST00000497488.1:c.-133T>G	ENSP00000418986.1:n.-133T>G
ENST00000586385.5:c.4+30407T>G	ENSP00000465818.1:n.4+30407T>G
ENST00000591534.5:c.-43-20254T>G	ENSP00000467329.1:n.-43-20254T>G
ENST00000591849.5:c.-99+30496T>G	ENSP00000465347.1:n.-99+30496T>G
ENST00000634433.1:c.633T>G	ENSP00000489431.1:p.Arg211=
NM_007294.3:c.756T>G , LRG_292t1:c.756T>G	NP_009225.1:p.Arg252=
NM_007297.3:c.615T>G	NP_009228.2:p.Arg205=
NM_007298.3:c.756T>G	NP_009229.2:p.Arg252=
NM_007299.3:c.756T>G	NP_009230.2:p.Arg252=
NM_007300.3:c.756T>G	NP_009231.2:p.Arg252=
NR_027676.1:n.892T>G
NM_007294.4:c.756T>G MANE Select	NP_009225.1:p.Arg252=
NM_007297.4:c.615T>G	NP_009228.2:p.Arg205=
NM_007299.4:c.756T>G	NP_009230.2:p.Arg252=
NM_007300.4:c.756T>G	NP_009231.2:p.Arg252=
NR_027676.2:n.933T>G