Canonical Allele Identifier: CA10590621

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047693G>A , CM000679.2:g.43047693G>A	GRCh38
NC_000017.10:g.41199710G>A , CM000679.1:g.41199710G>A	GRCh37
NC_000017.9:g.38453236G>A	NCBI36
NG_005905.2:g.170291C>T , LRG_292:g.170291C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5417C>T MANE Select	NP_009225.1:p.Pro1806Leu
ENST00000357654.9:c.5417C>T MANE Select	ENSP00000350283.3:p.Pro1806Leu
NM_007294.3:c.5417C>T , LRG_292t1:c.5417C>T	NP_009225.1:p.Pro1806Leu
NM_007297.3:c.5276C>T	NP_009228.2:p.Pro1759Leu
NM_007297.4:c.5276C>T	NP_009228.2:p.Pro1759Leu
NM_007298.3:c.2105C>T	NP_009229.2:p.Pro702Leu
NM_007299.3:c.2031C>T	NP_009230.2:p.Pro677=
NM_007299.4:c.2031C>T	NP_009230.2:p.Pro677=
NM_007300.3:c.5480C>T	NP_009231.2:p.Pro1827Leu
NM_007300.4:c.5480C>T	NP_009231.2:p.Pro1827Leu
NR_027676.1:n.5553C>T
NR_027676.2:n.5594C>T
ENST00000352993.7:c.1991C>T	ENSP00000312236.5:p.Pro664Leu
ENST00000357654.7:c.5417C>T	ENSP00000350283.3:p.Pro1806Leu
ENST00000461221.5:c.*5200C>T	ENSP00000418548.1:n.*5200C>T
ENST00000461574.2:c.5414C>T	ENSP00000417241.2:p.Pro1805Leu
ENST00000468300.5:c.2031C>T	ENSP00000417148.1:p.Pro677=
ENST00000470026.6:c.5417C>T	ENSP00000419274.2:p.Pro1806Leu
ENST00000471181.6:c.5480C>T	ENSP00000418960.2:p.Pro1827Leu
ENST00000471181.7:c.5480C>T	ENSP00000418960.2:p.Pro1827Leu
ENST00000473961.6:c.5291C>T	ENSP00000420201.2:p.Pro1764Leu
ENST00000476777.6:c.5411C>T	ENSP00000417554.2:p.Pro1804Leu
ENST00000477152.6:c.5339C>T	ENSP00000419988.2:p.Pro1780Leu
ENST00000478531.6:c.2105C>T	ENSP00000420412.2:p.Pro702Leu
ENST00000484087.6:c.1979C>T	ENSP00000419481.2:p.Pro660Leu
ENST00000489037.2:c.5339C>T	ENSP00000420781.2:p.Pro1780Leu
ENST00000491747.6:c.2105C>T	ENSP00000420705.2:p.Pro702Leu
ENST00000493795.5:c.5276C>T	ENSP00000418775.1:p.Pro1759Leu
ENST00000493919.6:c.1967C>T	ENSP00000418819.2:p.Pro656Leu
ENST00000494123.6:c.5417C>T	ENSP00000419103.2:p.Pro1806Leu
ENST00000497488.2:c.4529C>T	ENSP00000418986.2:p.Pro1510Leu
ENST00000586385.5:c.347C>T	ENSP00000465818.1:p.Pro116Leu
ENST00000591534.5:c.890C>T	ENSP00000467329.1:p.Pro297Leu
ENST00000591849.5:c.116C>T	ENSP00000465347.1:p.Pro39Leu
ENST00000618469.2:c.5417C>T	ENSP00000478114.2:p.Pro1806Leu
ENST00000634433.2:c.5294C>T	ENSP00000489431.2:p.Pro1765Leu
ENST00000644379.1:c.1804C>T
ENST00000644379.2:c.5483C>T	ENSP00000496570.2:p.Pro1828Leu
ENST00000644555.2:c.1967C>T	ENSP00000494614.2:p.Pro656Leu
ENST00000652672.2:c.5276C>T	ENSP00000498906.2:p.Pro1759Leu
ENST00000700081.1:n.1300C>T
ENST00000700082.1:n.781C>T