Canonical Allele Identifier: CA10591834

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071068C>T , CM000679.2:g.43071068C>T	GRCh38
NC_000017.10:g.41223085C>T , CM000679.1:g.41223085C>T	GRCh37
NC_000017.9:g.38476611C>T	NCBI36
NG_005905.2:g.146916G>A , LRG_292:g.146916G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4846G>A MANE Select	NP_009225.1:p.Ala1616Thr
ENST00000357654.9:c.4846G>A MANE Select	ENSP00000350283.3:p.Ala1616Thr
NM_007294.3:c.4846G>A , LRG_292t1:c.4846G>A	NP_009225.1:p.Ala1616Thr
NM_007297.3:c.4705G>A	NP_009228.2:p.Ala1569Thr
NM_007297.4:c.4705G>A	NP_009228.2:p.Ala1569Thr
NM_007298.3:c.1534G>A	NP_009229.2:p.Ala512Thr
NM_007299.3:c.1534G>A	NP_009230.2:p.Ala512Thr
NM_007299.4:c.1534G>A	NP_009230.2:p.Ala512Thr
NM_007300.3:c.4909G>A	NP_009231.2:p.Ala1637Thr
NM_007300.4:c.4909G>A	NP_009231.2:p.Ala1637Thr
NR_027676.1:n.4982G>A
NR_027676.2:n.5023G>A
ENST00000352993.7:c.1420G>A	ENSP00000312236.5:p.Ala474Thr
ENST00000357654.7:c.4846G>A	ENSP00000350283.3:p.Ala1616Thr
ENST00000461221.5:c.*4629G>A	ENSP00000418548.1:n.*4629G>A
ENST00000461574.2:c.4843G>A	ENSP00000417241.2:p.Ala1615Thr
ENST00000468300.5:c.1534G>A	ENSP00000417148.1:p.Ala512Thr
ENST00000470026.6:c.4846G>A	ENSP00000419274.2:p.Ala1616Thr
ENST00000471181.6:c.4909G>A	ENSP00000418960.2:p.Ala1637Thr
ENST00000471181.7:c.4909G>A	ENSP00000418960.2:p.Ala1637Thr
ENST00000473961.6:c.4720G>A	ENSP00000420201.2:p.Ala1574Thr
ENST00000476777.6:c.4840G>A	ENSP00000417554.2:p.Ala1614Thr
ENST00000477152.6:c.4768G>A	ENSP00000419988.2:p.Ala1590Thr
ENST00000478531.5:c.1534G>A	ENSP00000420412.1:p.Ala512Thr
ENST00000478531.6:c.1534G>A	ENSP00000420412.2:p.Ala512Thr
ENST00000484087.5:c.1159G>A	ENSP00000419481.1:p.Ala387Thr
ENST00000484087.6:c.1408G>A	ENSP00000419481.2:p.Ala470Thr
ENST00000489037.2:c.4768G>A	ENSP00000420781.2:p.Ala1590Thr
ENST00000491747.6:c.1534G>A	ENSP00000420705.2:p.Ala512Thr
ENST00000493795.5:c.4705G>A	ENSP00000418775.1:p.Ala1569Thr
ENST00000493919.5:c.1396G>A	ENSP00000418819.1:p.Ala466Thr
ENST00000493919.6:c.1396G>A	ENSP00000418819.2:p.Ala466Thr
ENST00000494123.6:c.4846G>A	ENSP00000419103.2:p.Ala1616Thr
ENST00000497488.2:c.3958G>A	ENSP00000418986.2:p.Ala1320Thr
ENST00000586385.5:c.5-7117G>A	ENSP00000465818.1:n.5-7117G>A
ENST00000591534.5:c.319G>A	ENSP00000467329.1:p.Ala107Thr
ENST00000591849.5:c.-98-20878G>A	ENSP00000465347.1:n.-98-20878G>A
ENST00000618469.2:c.4846G>A	ENSP00000478114.2:p.Ala1616Thr
ENST00000634433.2:c.4723G>A	ENSP00000489431.2:p.Ala1575Thr
ENST00000644379.1:c.1233G>A
ENST00000644379.2:c.4912G>A	ENSP00000496570.2:p.Ala1638Thr
ENST00000644555.2:c.1396G>A	ENSP00000494614.2:p.Ala466Thr
ENST00000652672.2:c.4705G>A	ENSP00000498906.2:p.Ala1569Thr
ENST00000700182.1:c.1453G>A	ENSP00000514849.1:p.Ala485Thr