Canonical Allele Identifier: CA10592181

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41226357G>T (hg19) ; chr17:g.43074340G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074340G>T , CM000679.2:g.43074340G>T	GRCh38
NC_000017.10:g.41226357G>T , CM000679.1:g.41226357G>T	GRCh37
NC_000017.9:g.38479883G>T	NCBI36
NG_005905.2:g.143644C>A , LRG_292:g.143644C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4663C>A	ENSP00000417241.2:p.Gln1555Lys
ENST00000470026.6:c.4666C>A	ENSP00000419274.2:p.Gln1556Lys
ENST00000473961.6:c.4540C>A	ENSP00000420201.2:p.Gln1514Lys
ENST00000476777.6:c.4660C>A	ENSP00000417554.2:p.Gln1554Lys
ENST00000477152.6:c.4588C>A	ENSP00000419988.2:p.Gln1530Lys
ENST00000478531.6:c.1354C>A	ENSP00000420412.2:p.Gln452Lys
ENST00000489037.2:c.4588C>A	ENSP00000420781.2:p.Gln1530Lys
ENST00000493919.6:c.1216C>A	ENSP00000418819.2:p.Gln406Lys
ENST00000494123.6:c.4666C>A	ENSP00000419103.2:p.Gln1556Lys
ENST00000497488.2:c.3778C>A	ENSP00000418986.2:p.Gln1260Lys
ENST00000618469.2:c.4666C>A	ENSP00000478114.2:p.Gln1556Lys
ENST00000634433.2:c.4543C>A	ENSP00000489431.2:p.Gln1515Lys
ENST00000644379.2:c.4732C>A	ENSP00000496570.2:p.Gln1578Lys
ENST00000644555.2:c.1216C>A	ENSP00000494614.2:p.Gln406Lys
ENST00000652672.2:c.4525C>A	ENSP00000498906.2:p.Gln1509Lys
ENST00000484087.6:c.1228C>A	ENSP00000419481.2:p.Gln410Lys
ENST00000700182.1:c.1273C>A	ENSP00000514849.1:p.Gln425Lys
ENST00000357654.9:c.4666C>A MANE Select	ENSP00000350283.3:p.Gln1556Lys
ENST00000471181.7:c.4729C>A	ENSP00000418960.2:p.Gln1577Lys
ENST00000644379.1:c.1053C>A
ENST00000352993.7:c.1240C>A	ENSP00000312236.5:p.Gln414Lys
ENST00000357654.7:c.4666C>A	ENSP00000350283.3:p.Gln1556Lys
ENST00000461221.5:c.*4449C>A	ENSP00000418548.1:n.*4449C>A
ENST00000468300.5:c.1354C>A	ENSP00000417148.1:p.Gln452Lys
ENST00000471181.6:c.4729C>A	ENSP00000418960.2:p.Gln1577Lys
ENST00000478531.5:c.1354C>A	ENSP00000420412.1:p.Gln452Lys
ENST00000484087.5:c.979C>A	ENSP00000419481.1:p.Gln327Lys
ENST00000491747.6:c.1354C>A	ENSP00000420705.2:p.Gln452Lys
ENST00000493795.5:c.4525C>A	ENSP00000418775.1:p.Gln1509Lys
ENST00000493919.5:c.1216C>A	ENSP00000418819.1:p.Gln406Lys
ENST00000586385.5:c.5-10389C>A	ENSP00000465818.1:n.5-10389C>A
ENST00000591534.5:c.139C>A	ENSP00000467329.1:p.Gln47Lys
ENST00000591849.5:c.-98-24150C>A	ENSP00000465347.1:n.-98-24150C>A
NM_007294.3:c.4666C>A , LRG_292t1:c.4666C>A	NP_009225.1:p.Gln1556Lys
NM_007297.3:c.4525C>A	NP_009228.2:p.Gln1509Lys
NM_007298.3:c.1354C>A	NP_009229.2:p.Gln452Lys
NM_007299.3:c.1354C>A	NP_009230.2:p.Gln452Lys
NM_007300.3:c.4729C>A	NP_009231.2:p.Gln1577Lys
NR_027676.1:n.4802C>A
NM_007294.4:c.4666C>A MANE Select	NP_009225.1:p.Gln1556Lys
NM_007297.4:c.4525C>A	NP_009228.2:p.Gln1509Lys
NM_007299.4:c.1354C>A	NP_009230.2:p.Gln452Lys
NM_007300.4:c.4729C>A	NP_009231.2:p.Gln1577Lys
NR_027676.2:n.4843C>A