Canonical Allele Identifier: CA2573154000

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43125358T>A , CM000679.2:g.43125358T>A	GRCh38
NC_000017.10:g.41277375T>A , CM000679.1:g.41277375T>A	GRCh37
NC_000017.9:g.38530901T>A	NCBI36
NG_005905.2:g.92626A>T , LRG_292:g.92626A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.-107A>T MANE Select	NP_009225.1:n.-107A>T
ENST00000357654.9:c.-107A>T MANE Select	ENSP00000350283.3:n.-107A>T
NM_007294.3:c.-107A>T , LRG_292t1:c.-107A>T	NP_009225.1:n.-107A>T
NM_007297.3:c.-188A>T	NP_009228.2:n.-188A>T
NM_007297.4:c.-188A>T	NP_009228.2:n.-188A>T
NM_007299.3:c.-101A>T	NP_009230.2:n.-101A>T
NM_007299.4:c.-101A>T	NP_009230.2:n.-101A>T
NM_007300.3:c.-107A>T	NP_009231.2:n.-107A>T
NM_007300.4:c.-107A>T	NP_009231.2:n.-107A>T
NR_027676.2:n.7A>T
ENST00000352993.7:c.-107A>T	ENSP00000312236.5:n.-107A>T
ENST00000357654.7:c.-107A>T	ENSP00000350283.3:n.-107A>T
ENST00000461574.2:c.-107A>T	ENSP00000417241.2:n.-107A>T
ENST00000461798.5:c.-101A>T	ENSP00000417988.1:n.-101A>T
ENST00000468300.5:c.-101A>T	ENSP00000417148.1:n.-101A>T
ENST00000471181.6:c.-107A>T	ENSP00000418960.2:n.-107A>T
ENST00000471181.7:c.-107A>T	ENSP00000418960.2:n.-107A>T
ENST00000473961.6:c.-107A>T	ENSP00000420201.2:n.-107A>T
ENST00000476777.6:c.-107A>T	ENSP00000417554.2:n.-107A>T
ENST00000477152.5:c.-107A>T	ENSP00000419988.1:n.-107A>T
ENST00000477152.6:c.-107A>T	ENSP00000419988.2:n.-107A>T
ENST00000478531.5:c.-101A>T	ENSP00000420412.1:n.-101A>T
ENST00000478531.6:c.-101A>T	ENSP00000420412.2:n.-101A>T
ENST00000493795.5:c.-188A>T	ENSP00000418775.1:n.-188A>T
ENST00000493919.5:c.-188A>T	ENSP00000418819.1:n.-188A>T
ENST00000493919.6:c.-188A>T	ENSP00000418819.2:n.-188A>T
ENST00000494123.5:c.-101A>T	ENSP00000419103.1:n.-101A>T
ENST00000494123.6:c.-101A>T	ENSP00000419103.2:n.-101A>T
ENST00000618469.1:c.-641A>T	ENSP00000478114.1:n.-641A>T
ENST00000618469.2:c.-641A>T	ENSP00000478114.2:n.-641A>T
ENST00000634433.1:c.-19-1243A>T	ENSP00000489431.1:n.-19-1243A>T
ENST00000634433.2:c.-19-1243A>T	ENSP00000489431.2:n.-19-1243A>T
ENST00000644379.2:c.-107A>T	ENSP00000496570.2:n.-107A>T
ENST00000644555.2:c.-393A>T	ENSP00000494614.2:n.-393A>T
ENST00000652672.1:c.-361A>T	ENSP00000498906.1:n.-361A>T
ENST00000652672.2:c.-361A>T	ENSP00000498906.2:n.-361A>T
ENST00000700185.1:n.13A>T
ENST00000700186.1:n.13A>T