Canonical Allele Identifier: CA10594459

Gene: BRCA1

Identifiers and link-outs to other resources

• MyVariant Identifiers: chr17:g.41243791A>G (hg19) ; chr17:g.43091774A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091774A>G , CM000679.2:g.43091774A>G	GRCh38
NC_000017.10:g.41243791A>G , CM000679.1:g.41243791A>G	GRCh37
NC_000017.9:g.38497317A>G	NCBI36
NG_005905.2:g.126210T>C , LRG_292:g.126210T>C

Transcript Alleles

HGVS	Amino-acid change
NM_007294.3:c.3757T>C , LRG_292t1:c.3757T>C	NP_009225.1:p.Ser1253Pro
NM_007297.3:c.3616T>C VV	NP_009228.2:p.Ser1206Pro
NM_007298.3:c.788-742T>C VV	NP_009229.2:p.=
NM_007299.3:c.788-742T>C VV	NP_009230.2:p.=
NM_007300.3:c.3757T>C VV	NP_009231.2:p.Ser1253Pro
NR_027676.1:n.3893T>C
NM_007294.4:c.3757T>C VV MANE Preferred	NP_009225.1:p.Ser1253Pro
NM_007297.4:c.3616T>C VV	NP_009228.2:p.Ser1206Pro
NM_007299.4:c.788-742T>C VV	NP_009230.2:p.=
NM_007300.4:c.3757T>C VV	NP_009231.2:p.Ser1253Pro
NR_027676.2:n.3934T>C
ENST00000352993.7:c.671-742T>C	ENSP00000312236.5:p.=
ENST00000354071.7:c.3757T>C	ENSP00000326002.7:p.Ser1253Pro
ENST00000357654.7:c.3757T>C	ENSP00000350283.3:p.Ser1253Pro
ENST00000461221.5:c.*3540T>C	ENSP00000418548.1:p.=
ENST00000461574.1:n.51T>C
ENST00000468300.5:c.788-742T>C	ENSP00000417148.1:p.=
ENST00000471181.6:c.3757T>C	ENSP00000418960.2:p.Ser1253Pro
ENST00000478531.5:c.785-742T>C	ENSP00000420412.1:p.=
ENST00000484087.5:n.410-742T>C	ENSP00000419481.1:p.=
ENST00000487825.5:n.413-742T>C	ENSP00000418212.1:p.=
ENST00000491747.6:c.788-742T>C	ENSP00000420705.2:p.=
ENST00000493795.5:c.3616T>C	ENSP00000418775.1:p.Ser1206Pro
ENST00000493919.5:c.647-742T>C	ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27823T>C	ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17253T>C	ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33497T>C	ENSP00000465347.1:p.=