Canonical Allele Identifier: CA500232242

Gene: BRCA1

Linked Data

• dbSNP Id: rs1555587190
• MyVariant Identifiers: chr17:g.41243804A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091787A>G , CM000679.2:g.43091787A>G	GRCh38
NC_000017.10:g.41243804A>G , CM000679.1:g.41243804A>G	GRCh37
NC_000017.9:g.38497330A>G	NCBI36
NG_005905.2:g.126197T>C , LRG_292:g.126197T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3808T>C
ENST00000461574.2:c.3744T>C	ENSP00000417241.2:p.Ala1248=
ENST00000470026.6:c.3744T>C	ENSP00000419274.2:p.Ala1248=
ENST00000473961.6:c.3618T>C	ENSP00000420201.2:p.Ala1206=
ENST00000476777.6:c.3741T>C	ENSP00000417554.2:p.Ala1247=
ENST00000477152.6:c.3666T>C	ENSP00000419988.2:p.Ala1222=
ENST00000478531.6:c.785-755T>C	ENSP00000420412.2:n.785-755T>C
ENST00000489037.2:c.3666T>C	ENSP00000420781.2:p.Ala1222=
ENST00000493919.6:c.647-755T>C	ENSP00000418819.2:n.647-755T>C
ENST00000494123.6:c.3744T>C	ENSP00000419103.2:p.Ala1248=
ENST00000497488.2:c.2856T>C	ENSP00000418986.2:p.Ala952=
ENST00000618469.2:c.3744T>C	ENSP00000478114.2:p.Ala1248=
ENST00000634433.2:c.3621T>C	ENSP00000489431.2:p.Ala1207=
ENST00000644379.2:c.3744T>C	ENSP00000496570.2:p.Ala1248=
ENST00000644555.2:c.647-755T>C	ENSP00000494614.2:n.647-755T>C
ENST00000652672.2:c.3603T>C	ENSP00000498906.2:p.Ala1201=
ENST00000484087.6:c.665-755T>C	ENSP00000419481.2:n.665-755T>C
ENST00000700182.1:c.707-755T>C	ENSP00000514849.1:n.707-755T>C
ENST00000357654.9:c.3744T>C MANE Select	ENSP00000350283.3:p.Ala1248=
ENST00000471181.7:c.3744T>C	ENSP00000418960.2:p.Ala1248=
ENST00000644379.1:c.65T>C
ENST00000352993.7:c.671-755T>C	ENSP00000312236.5:n.671-755T>C
ENST00000354071.7:c.3744T>C	ENSP00000326002.7:p.Ala1248=
ENST00000357654.7:c.3744T>C	ENSP00000350283.3:p.Ala1248=
ENST00000461221.5:c.*3527T>C	ENSP00000418548.1:n.*3527T>C
ENST00000461574.1:c.38T>C
ENST00000468300.5:c.788-755T>C	ENSP00000417148.1:n.788-755T>C
ENST00000471181.6:c.3744T>C	ENSP00000418960.2:p.Ala1248=
ENST00000478531.5:c.785-755T>C	ENSP00000420412.1:n.785-755T>C
ENST00000484087.5:c.410-755T>C	ENSP00000419481.1:n.410-755T>C
ENST00000487825.5:c.413-755T>C	ENSP00000418212.1:n.413-755T>C
ENST00000491747.6:c.788-755T>C	ENSP00000420705.2:n.788-755T>C
ENST00000493795.5:c.3603T>C	ENSP00000418775.1:p.Ala1201=
ENST00000493919.5:c.647-755T>C	ENSP00000418819.1:n.647-755T>C
ENST00000586385.5:c.5-27836T>C	ENSP00000465818.1:n.5-27836T>C
ENST00000591534.5:c.-43-17266T>C	ENSP00000467329.1:n.-43-17266T>C
ENST00000591849.5:c.-99+33484T>C	ENSP00000465347.1:n.-99+33484T>C
NM_007294.3:c.3744T>C , LRG_292t1:c.3744T>C	NP_009225.1:p.Ala1248=
NM_007297.3:c.3603T>C	NP_009228.2:p.Ala1201=
NM_007298.3:c.788-755T>C	NP_009229.2:n.788-755T>C
NM_007299.3:c.788-755T>C	NP_009230.2:n.788-755T>C
NM_007300.3:c.3744T>C	NP_009231.2:p.Ala1248=
NR_027676.1:n.3880T>C
NM_007294.4:c.3744T>C MANE Select	NP_009225.1:p.Ala1248=
NM_007297.4:c.3603T>C	NP_009228.2:p.Ala1201=
NM_007299.4:c.788-755T>C	NP_009230.2:n.788-755T>C
NM_007300.4:c.3744T>C	NP_009231.2:p.Ala1248=
NR_027676.2:n.3921T>C