Canonical Allele Identifier: CA2260761048

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045716T= , CM000679.2:g.43045716T=	GRCh38
NC_000017.10:g.41197733T= , CM000679.1:g.41197733T=	GRCh37
NC_000017.9:g.38451259T=	NCBI36
NG_005905.2:g.172268A= , LRG_292:g.172268A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5551A=	ENSP00000417241.2:p.Thr1851=
ENST00000470026.6:c.5554A=	ENSP00000419274.2:p.Thr1852=
ENST00000473961.6:c.5428A=	ENSP00000420201.2:p.Thr1810=
ENST00000476777.6:c.5548A=	ENSP00000417554.2:p.Thr1850=
ENST00000477152.6:c.5476A=	ENSP00000419988.2:p.Thr1826=
ENST00000478531.6:c.2242A=	ENSP00000420412.2:p.Thr748=
ENST00000489037.2:c.5476A=	ENSP00000420781.2:p.Thr1826=
ENST00000493919.6:c.2104A=	ENSP00000418819.2:p.Thr702=
ENST00000494123.6:c.5554A=	ENSP00000419103.2:p.Thr1852=
ENST00000497488.2:c.4666A=	ENSP00000418986.2:p.Thr1556=
ENST00000618469.2:c.5554A=	ENSP00000478114.2:p.Thr1852=
ENST00000634433.2:c.5431A=	ENSP00000489431.2:p.Thr1811=
ENST00000644379.2:c.5620A=	ENSP00000496570.2:p.Thr1874=
ENST00000644555.2:c.2104A=	ENSP00000494614.2:p.Thr702=
ENST00000652672.2:c.5413A=	ENSP00000498906.2:p.Thr1805=
ENST00000484087.6:c.2116A=	ENSP00000419481.2:p.Thr706=
ENST00000700081.1:n.1437A=
ENST00000700082.1:n.918A=
ENST00000357654.9:c.5554A= MANE Select	ENSP00000350283.3:p.Thr1852=
ENST00000471181.7:c.5617A=	ENSP00000418960.2:p.Thr1873=
ENST00000644379.1:c.1941A=
ENST00000352993.7:c.2128A=	ENSP00000312236.5:p.Thr710=
ENST00000357654.7:c.5554A=	ENSP00000350283.3:p.Thr1852=
ENST00000461221.5:c.*5337A=	ENSP00000418548.1:n.*5337A=
ENST00000468300.5:c.*68A=	ENSP00000417148.1:n.*68A=
ENST00000471181.6:c.5617A=	ENSP00000418960.2:p.Thr1873=
ENST00000491747.6:c.2242A=	ENSP00000420705.2:p.Thr748=
ENST00000493795.5:c.5413A=	ENSP00000418775.1:p.Thr1805=
ENST00000586385.5:c.484A=	ENSP00000465818.1:p.Thr162=
ENST00000591534.5:c.1027A=	ENSP00000467329.1:p.Thr343=
ENST00000591849.5:c.253A=	ENSP00000465347.1:p.Thr85=
NM_007294.3:c.5554A= , LRG_292t1:c.5554A=	NP_009225.1:p.Thr1852=
NM_007297.3:c.5413A=	NP_009228.2:p.Thr1805=
NM_007298.3:c.2242A=	NP_009229.2:p.Thr748=
NM_007299.3:c.*68A=	NP_009230.2:n.*68A=
NM_007300.3:c.5617A=	NP_009231.2:p.Thr1873=
NR_027676.1:n.5690A=
NM_007294.4:c.5554A= MANE Select	NP_009225.1:p.Thr1852=
NM_007297.4:c.5413A=	NP_009228.2:p.Thr1805=
NM_007299.4:c.*68A=	NP_009230.2:n.*68A=
NM_007300.4:c.5617A=	NP_009231.2:p.Thr1873=
NR_027676.2:n.5731A=