Canonical Allele Identifier: CA10591609

Gene: BRCA1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4957G>T MANE Select	NP_009225.1:p.Val1653Leu
ENST00000357654.9:c.4957G>T MANE Select	ENSP00000350283.3:p.Val1653Leu
NM_007294.3:c.4957G>T , LRG_292t1:c.4957G>T	NP_009225.1:p.Val1653Leu
NM_007297.3:c.4816G>T	NP_009228.2:p.Val1606Leu
NM_007297.4:c.4816G>T	NP_009228.2:p.Val1606Leu
NM_007298.3:c.1645G>T	NP_009229.2:p.Val549Leu
NM_007299.3:c.1645G>T	NP_009230.2:p.Val549Leu
NM_007299.4:c.1645G>T	NP_009230.2:p.Val549Leu
NM_007300.3:c.5020G>T	NP_009231.2:p.Val1674Leu
NM_007300.4:c.5020G>T	NP_009231.2:p.Val1674Leu
NR_027676.1:n.5093G>T
NR_027676.2:n.5134G>T
ENST00000352993.7:c.1531G>T	ENSP00000312236.5:p.Val511Leu
ENST00000357654.7:c.4957G>T	ENSP00000350283.3:p.Val1653Leu
ENST00000461221.5:c.*4740G>T	ENSP00000418548.1:n.*4740G>T
ENST00000461574.2:c.4954G>T	ENSP00000417241.2:p.Val1652Leu
ENST00000468300.5:c.1645G>T	ENSP00000417148.1:p.Val549Leu
ENST00000470026.6:c.4957G>T	ENSP00000419274.2:p.Val1653Leu
ENST00000471181.6:c.5020G>T	ENSP00000418960.2:p.Val1674Leu
ENST00000471181.7:c.5020G>T	ENSP00000418960.2:p.Val1674Leu
ENST00000472490.1:n.110G>T
ENST00000473961.6:c.4831G>T	ENSP00000420201.2:p.Val1611Leu
ENST00000476777.6:c.4951G>T	ENSP00000417554.2:p.Val1651Leu
ENST00000477152.6:c.4879G>T	ENSP00000419988.2:p.Val1627Leu
ENST00000478531.5:c.1645G>T	ENSP00000420412.1:p.Val549Leu
ENST00000478531.6:c.1645G>T	ENSP00000420412.2:p.Val549Leu
ENST00000484087.5:c.1270G>T	ENSP00000419481.1:p.Val424Leu
ENST00000484087.6:c.1519G>T	ENSP00000419481.2:p.Val507Leu
ENST00000489037.2:c.4879G>T	ENSP00000420781.2:p.Val1627Leu
ENST00000491747.6:c.1645G>T	ENSP00000420705.2:p.Val549Leu
ENST00000493795.5:c.4816G>T	ENSP00000418775.1:p.Val1606Leu
ENST00000493919.5:c.1507G>T	ENSP00000418819.1:p.Val503Leu
ENST00000493919.6:c.1507G>T	ENSP00000418819.2:p.Val503Leu
ENST00000494123.6:c.4957G>T	ENSP00000419103.2:p.Val1653Leu
ENST00000497488.2:c.4069G>T	ENSP00000418986.2:p.Val1357Leu
ENST00000586385.5:c.5-7006G>T	ENSP00000465818.1:n.5-7006G>T
ENST00000591534.5:c.430G>T	ENSP00000467329.1:p.Val144Leu
ENST00000591849.5:c.-98-20767G>T	ENSP00000465347.1:n.-98-20767G>T
ENST00000618469.2:c.4957G>T	ENSP00000478114.2:p.Val1653Leu
ENST00000634433.2:c.4834G>T	ENSP00000489431.2:p.Val1612Leu
ENST00000644379.1:c.1344G>T
ENST00000644379.2:c.5023G>T	ENSP00000496570.2:p.Val1675Leu
ENST00000644555.2:c.1507G>T	ENSP00000494614.2:p.Val503Leu
ENST00000652672.2:c.4816G>T	ENSP00000498906.2:p.Val1606Leu
ENST00000700182.1:c.1564G>T	ENSP00000514849.1:p.Val522Leu