Canonical Allele Identifier: CA2260781966
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091486T= , CM000679.2:g.43091486T= GRCh38
NC_000017.10:g.41243503T= , CM000679.1:g.41243503T= GRCh37
NC_000017.9:g.38497029T= NCBI36
NG_005905.2:g.126498A= , LRG_292:g.126498A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4109A=
ENST00000461574.2:c.4045A= ENSP00000417241.2:p.Thr1349=
ENST00000470026.6:c.4045A= ENSP00000419274.2:p.Thr1349=
ENST00000473961.6:c.3919A= ENSP00000420201.2:p.Thr1307=
ENST00000476777.6:c.4042A= ENSP00000417554.2:p.Thr1348=
ENST00000477152.6:c.3967A= ENSP00000419988.2:p.Thr1323=
ENST00000478531.6:c.785-454A= ENSP00000420412.2:n.785-454A=
ENST00000489037.2:c.3967A= ENSP00000420781.2:p.Thr1323=
ENST00000493919.6:c.647-454A= ENSP00000418819.2:n.647-454A=
ENST00000494123.6:c.4045A= ENSP00000419103.2:p.Thr1349=
ENST00000497488.2:c.3157A= ENSP00000418986.2:p.Thr1053=
ENST00000618469.2:c.4045A= ENSP00000478114.2:p.Thr1349=
ENST00000634433.2:c.3922A= ENSP00000489431.2:p.Thr1308=
ENST00000644379.2:c.4045A= ENSP00000496570.2:p.Thr1349=
ENST00000644555.2:c.647-454A= ENSP00000494614.2:n.647-454A=
ENST00000652672.2:c.3904A= ENSP00000498906.2:p.Thr1302=
ENST00000484087.6:c.665-454A= ENSP00000419481.2:n.665-454A=
ENST00000700182.1:c.707-454A= ENSP00000514849.1:n.707-454A=
ENST00000357654.9:c.4045A= MANE Select ENSP00000350283.3:p.Thr1349=
ENST00000471181.7:c.4045A= ENSP00000418960.2:p.Thr1349=
ENST00000644379.1:c.366A=
ENST00000352993.7:c.671-454A= ENSP00000312236.5:n.671-454A=
ENST00000354071.7:c.4045A= ENSP00000326002.7:p.Thr1349=
ENST00000357654.7:c.4045A= ENSP00000350283.3:p.Thr1349=
ENST00000461221.5:c.*3828A= ENSP00000418548.1:n.*3828A=
ENST00000461574.1:c.339A=
ENST00000468300.5:c.788-454A= ENSP00000417148.1:n.788-454A=
ENST00000471181.6:c.4045A= ENSP00000418960.2:p.Thr1349=
ENST00000478531.5:c.785-454A= ENSP00000420412.1:n.785-454A=
ENST00000484087.5:c.410-454A= ENSP00000419481.1:n.410-454A=
ENST00000487825.5:c.413-454A= ENSP00000418212.1:n.413-454A=
ENST00000491747.6:c.788-454A= ENSP00000420705.2:n.788-454A=
ENST00000493795.5:c.3904A= ENSP00000418775.1:p.Thr1302=
ENST00000493919.5:c.647-454A= ENSP00000418819.1:n.647-454A=
ENST00000586385.5:c.5-27535A= ENSP00000465818.1:n.5-27535A=
ENST00000591534.5:c.-43-16965A= ENSP00000467329.1:n.-43-16965A=
ENST00000591849.5:c.-99+33785A= ENSP00000465347.1:n.-99+33785A=
NM_007294.3:c.4045A= , LRG_292t1:c.4045A= NP_009225.1:p.Thr1349=
NM_007297.3:c.3904A= NP_009228.2:p.Thr1302=
NM_007298.3:c.788-454A= NP_009229.2:n.788-454A=
NM_007299.3:c.788-454A= NP_009230.2:n.788-454A=
NM_007300.3:c.4045A= NP_009231.2:p.Thr1349=
NR_027676.1:n.4181A=
NM_007294.4:c.4045A= MANE Select NP_009225.1:p.Thr1349=
NM_007297.4:c.3904A= NP_009228.2:p.Thr1302=
NM_007299.4:c.788-454A= NP_009230.2:n.788-454A=
NM_007300.4:c.4045A= NP_009231.2:p.Thr1349=
NR_027676.2:n.4222A=