Canonical Allele Identifier: CA2260763692

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051068G= , CM000679.2:g.43051068G=	GRCh38
NC_000017.10:g.41203085G= , CM000679.1:g.41203085G=	GRCh37
NC_000017.9:g.38456611G=	NCBI36
NG_005905.2:g.166916C= , LRG_292:g.166916C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5324C=	ENSP00000417241.2:p.Pro1775=
ENST00000470026.6:c.5327C=	ENSP00000419274.2:p.Pro1776=
ENST00000473961.6:c.5201C=	ENSP00000420201.2:p.Pro1734=
ENST00000476777.6:c.5321C=	ENSP00000417554.2:p.Pro1774=
ENST00000477152.6:c.5249C=	ENSP00000419988.2:p.Pro1750=
ENST00000478531.6:c.2015C=	ENSP00000420412.2:p.Pro672=
ENST00000489037.2:c.5249C=	ENSP00000420781.2:p.Pro1750=
ENST00000493919.6:c.1877C=	ENSP00000418819.2:p.Pro626=
ENST00000494123.6:c.5327C=	ENSP00000419103.2:p.Pro1776=
ENST00000497488.2:c.4439C=	ENSP00000418986.2:p.Pro1480=
ENST00000618469.2:c.5327C=	ENSP00000478114.2:p.Pro1776=
ENST00000634433.2:c.5204C=	ENSP00000489431.2:p.Pro1735=
ENST00000644379.2:c.5393C=	ENSP00000496570.2:p.Pro1798=
ENST00000644555.2:c.1877C=	ENSP00000494614.2:p.Pro626=
ENST00000652672.2:c.5186C=	ENSP00000498906.2:p.Pro1729=
ENST00000484087.6:c.1889C=	ENSP00000419481.2:p.Pro630=
ENST00000357654.9:c.5327C= MANE Select	ENSP00000350283.3:p.Pro1776=
ENST00000471181.7:c.5390C=	ENSP00000418960.2:p.Pro1797=
ENST00000644379.1:c.1714C=
ENST00000352993.7:c.1901C=	ENSP00000312236.5:p.Pro634=
ENST00000357654.7:c.5327C=	ENSP00000350283.3:p.Pro1776=
ENST00000461221.5:c.*5110C=	ENSP00000418548.1:n.*5110C=
ENST00000468300.5:c.2015C=	ENSP00000417148.1:p.Pro672=
ENST00000471181.6:c.5390C=	ENSP00000418960.2:p.Pro1797=
ENST00000491747.6:c.2015C=	ENSP00000420705.2:p.Pro672=
ENST00000493795.5:c.5186C=	ENSP00000418775.1:p.Pro1729=
ENST00000586385.5:c.257C=	ENSP00000465818.1:p.Pro86=
ENST00000591534.5:c.800C=	ENSP00000467329.1:p.Pro267=
ENST00000591849.5:c.-98-878C=	ENSP00000465347.1:n.-98-878C=
NM_007294.3:c.5327C= , LRG_292t1:c.5327C=	NP_009225.1:p.Pro1776=
NM_007297.3:c.5186C=	NP_009228.2:p.Pro1729=
NM_007298.3:c.2015C=	NP_009229.2:p.Pro672=
NM_007299.3:c.2015C=	NP_009230.2:p.Pro672=
NM_007300.3:c.5390C=	NP_009231.2:p.Pro1797=
NR_027676.1:n.5463C=
NM_007294.4:c.5327C= MANE Select	NP_009225.1:p.Pro1776=
NM_007297.4:c.5186C=	NP_009228.2:p.Pro1729=
NM_007299.4:c.2015C=	NP_009230.2:p.Pro672=
NM_007300.4:c.5390C=	NP_009231.2:p.Pro1797=
NR_027676.2:n.5504C=