Canonical Allele Identifier: CA003104

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070957C>T , CM000679.2:g.43070957C>T	GRCh38
NC_000017.10:g.41222974C>T , CM000679.1:g.41222974C>T	GRCh37
NC_000017.9:g.38476500C>T	NCBI36
NG_005905.2:g.147027G>A , LRG_292:g.147027G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4957G>A MANE Select	NP_009225.1:p.Val1653Met
ENST00000357654.9:c.4957G>A MANE Select	ENSP00000350283.3:p.Val1653Met
NM_007294.3:c.4957G>A , LRG_292t1:c.4957G>A	NP_009225.1:p.Val1653Met
NM_007297.3:c.4816G>A	NP_009228.2:p.Val1606Met
NM_007297.4:c.4816G>A	NP_009228.2:p.Val1606Met
NM_007298.3:c.1645G>A	NP_009229.2:p.Val549Met
NM_007299.3:c.1645G>A	NP_009230.2:p.Val549Met
NM_007299.4:c.1645G>A	NP_009230.2:p.Val549Met
NM_007300.3:c.5020G>A	NP_009231.2:p.Val1674Met
NM_007300.4:c.5020G>A	NP_009231.2:p.Val1674Met
NR_027676.1:n.5093G>A
NR_027676.2:n.5134G>A
ENST00000352993.7:c.1531G>A	ENSP00000312236.5:p.Val511Met
ENST00000357654.7:c.4957G>A	ENSP00000350283.3:p.Val1653Met
ENST00000461221.5:c.*4740G>A	ENSP00000418548.1:n.*4740G>A
ENST00000461574.2:c.4954G>A	ENSP00000417241.2:p.Val1652Met
ENST00000468300.5:c.1645G>A	ENSP00000417148.1:p.Val549Met
ENST00000470026.6:c.4957G>A	ENSP00000419274.2:p.Val1653Met
ENST00000471181.6:c.5020G>A	ENSP00000418960.2:p.Val1674Met
ENST00000471181.7:c.5020G>A	ENSP00000418960.2:p.Val1674Met
ENST00000472490.1:n.110G>A
ENST00000473961.6:c.4831G>A	ENSP00000420201.2:p.Val1611Met
ENST00000476777.6:c.4951G>A	ENSP00000417554.2:p.Val1651Met
ENST00000477152.6:c.4879G>A	ENSP00000419988.2:p.Val1627Met
ENST00000478531.5:c.1645G>A	ENSP00000420412.1:p.Val549Met
ENST00000478531.6:c.1645G>A	ENSP00000420412.2:p.Val549Met
ENST00000484087.5:c.1270G>A	ENSP00000419481.1:p.Val424Met
ENST00000484087.6:c.1519G>A	ENSP00000419481.2:p.Val507Met
ENST00000489037.2:c.4879G>A	ENSP00000420781.2:p.Val1627Met
ENST00000491747.6:c.1645G>A	ENSP00000420705.2:p.Val549Met
ENST00000493795.5:c.4816G>A	ENSP00000418775.1:p.Val1606Met
ENST00000493919.5:c.1507G>A	ENSP00000418819.1:p.Val503Met
ENST00000493919.6:c.1507G>A	ENSP00000418819.2:p.Val503Met
ENST00000494123.6:c.4957G>A	ENSP00000419103.2:p.Val1653Met
ENST00000497488.2:c.4069G>A	ENSP00000418986.2:p.Val1357Met
ENST00000586385.5:c.5-7006G>A	ENSP00000465818.1:n.5-7006G>A
ENST00000591534.5:c.430G>A	ENSP00000467329.1:p.Val144Met
ENST00000591849.5:c.-98-20767G>A	ENSP00000465347.1:n.-98-20767G>A
ENST00000618469.2:c.4957G>A	ENSP00000478114.2:p.Val1653Met
ENST00000634433.2:c.4834G>A	ENSP00000489431.2:p.Val1612Met
ENST00000644379.1:c.1344G>A
ENST00000644379.2:c.5023G>A	ENSP00000496570.2:p.Val1675Met
ENST00000644555.2:c.1507G>A	ENSP00000494614.2:p.Val503Met
ENST00000652672.2:c.4816G>A	ENSP00000498906.2:p.Val1606Met
ENST00000700182.1:c.1564G>A	ENSP00000514849.1:p.Val522Met