Canonical Allele Identifier: CA10590504

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047663G>A , CM000679.2:g.43047663G>A	GRCh38
NC_000017.10:g.41199680G>A , CM000679.1:g.41199680G>A	GRCh37
NC_000017.9:g.38453206G>A	NCBI36
NG_005905.2:g.170321C>T , LRG_292:g.170321C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5447C>T MANE Select	NP_009225.1:p.Thr1816Ile
ENST00000357654.9:c.5447C>T MANE Select	ENSP00000350283.3:p.Thr1816Ile
NM_007294.3:c.5447C>T , LRG_292t1:c.5447C>T	NP_009225.1:p.Thr1816Ile
NM_007297.3:c.5306C>T	NP_009228.2:p.Thr1769Ile
NM_007297.4:c.5306C>T	NP_009228.2:p.Thr1769Ile
NM_007298.3:c.2135C>T	NP_009229.2:p.Thr712Ile
NM_007299.3:c.2061C>T	NP_009230.2:p.Asp687=
NM_007299.4:c.2061C>T	NP_009230.2:p.Asp687=
NM_007300.3:c.5510C>T	NP_009231.2:p.Thr1837Ile
NM_007300.4:c.5510C>T	NP_009231.2:p.Thr1837Ile
NR_027676.1:n.5583C>T
NR_027676.2:n.5624C>T
ENST00000352993.7:c.2021C>T	ENSP00000312236.5:p.Thr674Ile
ENST00000357654.7:c.5447C>T	ENSP00000350283.3:p.Thr1816Ile
ENST00000461221.5:c.*5230C>T	ENSP00000418548.1:n.*5230C>T
ENST00000461574.2:c.5444C>T	ENSP00000417241.2:p.Thr1815Ile
ENST00000468300.5:c.2061C>T	ENSP00000417148.1:p.Asp687=
ENST00000470026.6:c.5447C>T	ENSP00000419274.2:p.Thr1816Ile
ENST00000471181.6:c.5510C>T	ENSP00000418960.2:p.Thr1837Ile
ENST00000471181.7:c.5510C>T	ENSP00000418960.2:p.Thr1837Ile
ENST00000473961.6:c.5321C>T	ENSP00000420201.2:p.Thr1774Ile
ENST00000476777.6:c.5441C>T	ENSP00000417554.2:p.Thr1814Ile
ENST00000477152.6:c.5369C>T	ENSP00000419988.2:p.Thr1790Ile
ENST00000478531.6:c.2135C>T	ENSP00000420412.2:p.Thr712Ile
ENST00000484087.6:c.2009C>T	ENSP00000419481.2:p.Thr670Ile
ENST00000489037.2:c.5369C>T	ENSP00000420781.2:p.Thr1790Ile
ENST00000491747.6:c.2135C>T	ENSP00000420705.2:p.Thr712Ile
ENST00000493795.5:c.5306C>T	ENSP00000418775.1:p.Thr1769Ile
ENST00000493919.6:c.1997C>T	ENSP00000418819.2:p.Thr666Ile
ENST00000494123.6:c.5447C>T	ENSP00000419103.2:p.Thr1816Ile
ENST00000497488.2:c.4559C>T	ENSP00000418986.2:p.Thr1520Ile
ENST00000586385.5:c.377C>T	ENSP00000465818.1:p.Thr126Ile
ENST00000591534.5:c.920C>T	ENSP00000467329.1:p.Thr307Ile
ENST00000591849.5:c.146C>T	ENSP00000465347.1:p.Thr49Ile
ENST00000618469.2:c.5447C>T	ENSP00000478114.2:p.Thr1816Ile
ENST00000634433.2:c.5324C>T	ENSP00000489431.2:p.Thr1775Ile
ENST00000644379.1:c.1834C>T
ENST00000644379.2:c.5513C>T	ENSP00000496570.2:p.Thr1838Ile
ENST00000644555.2:c.1997C>T	ENSP00000494614.2:p.Thr666Ile
ENST00000652672.2:c.5306C>T	ENSP00000498906.2:p.Thr1769Ile
ENST00000700081.1:n.1330C>T
ENST00000700082.1:n.811C>T