Canonical Allele Identifier: CA003678

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045764C>T , CM000679.2:g.43045764C>T	GRCh38
NC_000017.10:g.41197781C>T , CM000679.1:g.41197781C>T	GRCh37
NC_000017.9:g.38451307C>T	NCBI36
NG_005905.2:g.172220G>A , LRG_292:g.172220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5503G>A	ENSP00000417241.2:p.Glu1835Lys
ENST00000470026.6:c.5506G>A	ENSP00000419274.2:p.Glu1836Lys
ENST00000473961.6:c.5380G>A	ENSP00000420201.2:p.Glu1794Lys
ENST00000476777.6:c.5500G>A	ENSP00000417554.2:p.Glu1834Lys
ENST00000477152.6:c.5428G>A	ENSP00000419988.2:p.Glu1810Lys
ENST00000478531.6:c.2194G>A	ENSP00000420412.2:p.Glu732Lys
ENST00000489037.2:c.5428G>A	ENSP00000420781.2:p.Glu1810Lys
ENST00000493919.6:c.2056G>A	ENSP00000418819.2:p.Glu686Lys
ENST00000494123.6:c.5506G>A	ENSP00000419103.2:p.Glu1836Lys
ENST00000497488.2:c.4618G>A	ENSP00000418986.2:p.Glu1540Lys
ENST00000618469.2:c.5506G>A	ENSP00000478114.2:p.Glu1836Lys
ENST00000634433.2:c.5383G>A	ENSP00000489431.2:p.Glu1795Lys
ENST00000644379.2:c.5572G>A	ENSP00000496570.2:p.Glu1858Lys
ENST00000644555.2:c.2056G>A	ENSP00000494614.2:p.Glu686Lys
ENST00000652672.2:c.5365G>A	ENSP00000498906.2:p.Glu1789Lys
ENST00000484087.6:c.2068G>A	ENSP00000419481.2:p.Glu690Lys
ENST00000700081.1:n.1389G>A
ENST00000700082.1:n.870G>A
ENST00000357654.9:c.5506G>A MANE Select	ENSP00000350283.3:p.Glu1836Lys
ENST00000471181.7:c.5569G>A	ENSP00000418960.2:p.Glu1857Lys
ENST00000644379.1:c.1893G>A
ENST00000352993.7:c.2080G>A	ENSP00000312236.5:p.Glu694Lys
ENST00000357654.7:c.5506G>A	ENSP00000350283.3:p.Glu1836Lys
ENST00000461221.5:c.*5289G>A	ENSP00000418548.1:n.*5289G>A
ENST00000468300.5:c.*20G>A	ENSP00000417148.1:n.*20G>A
ENST00000471181.6:c.5569G>A	ENSP00000418960.2:p.Glu1857Lys
ENST00000491747.6:c.2194G>A	ENSP00000420705.2:p.Glu732Lys
ENST00000493795.5:c.5365G>A	ENSP00000418775.1:p.Glu1789Lys
ENST00000586385.5:c.436G>A	ENSP00000465818.1:p.Glu146Lys
ENST00000591534.5:c.979G>A	ENSP00000467329.1:p.Glu327Lys
ENST00000591849.5:c.205G>A	ENSP00000465347.1:p.Glu69Lys
NM_007294.3:c.5506G>A , LRG_292t1:c.5506G>A	NP_009225.1:p.Glu1836Lys
NM_007297.3:c.5365G>A	NP_009228.2:p.Glu1789Lys
NM_007298.3:c.2194G>A	NP_009229.2:p.Glu732Lys
NM_007299.3:c.*20G>A	NP_009230.2:n.*20G>A
NM_007300.3:c.5569G>A	NP_009231.2:p.Glu1857Lys
NR_027676.1:n.5642G>A
NM_007294.4:c.5506G>A MANE Select	NP_009225.1:p.Glu1836Lys
NM_007297.4:c.5365G>A	NP_009228.2:p.Glu1789Lys
NM_007299.4:c.*20G>A	NP_009230.2:n.*20G>A
NM_007300.4:c.5569G>A	NP_009231.2:p.Glu1857Lys
NR_027676.2:n.5683G>A