Canonical Allele Identifier: CA10592179

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 433717
• ClinVar RCV Id: RCV000501033 ; RCV000661316 ; RCV001182956 ; RCV001271026
• dbSNP Id: rs1555581812
• MyVariant Identifiers: chr17:g.41226357G>A (hg19) ; chr17:g.43074340G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4663C>T	ENSP00000417241.2:p.Gln1555Ter
ENST00000470026.6:c.4666C>T	ENSP00000419274.2:p.Gln1556Ter
ENST00000473961.6:c.4540C>T	ENSP00000420201.2:p.Gln1514Ter
ENST00000476777.6:c.4660C>T	ENSP00000417554.2:p.Gln1554Ter
ENST00000477152.6:c.4588C>T	ENSP00000419988.2:p.Gln1530Ter
ENST00000478531.6:c.1354C>T	ENSP00000420412.2:p.Gln452Ter
ENST00000489037.2:c.4588C>T	ENSP00000420781.2:p.Gln1530Ter
ENST00000493919.6:c.1216C>T	ENSP00000418819.2:p.Gln406Ter
ENST00000494123.6:c.4666C>T	ENSP00000419103.2:p.Gln1556Ter
ENST00000497488.2:c.3778C>T	ENSP00000418986.2:p.Gln1260Ter
ENST00000618469.2:c.4666C>T	ENSP00000478114.2:p.Gln1556Ter
ENST00000634433.2:c.4543C>T	ENSP00000489431.2:p.Gln1515Ter
ENST00000644379.2:c.4732C>T	ENSP00000496570.2:p.Gln1578Ter
ENST00000644555.2:c.1216C>T	ENSP00000494614.2:p.Gln406Ter
ENST00000652672.2:c.4525C>T	ENSP00000498906.2:p.Gln1509Ter
ENST00000484087.6:c.1228C>T	ENSP00000419481.2:p.Gln410Ter
ENST00000700182.1:c.1273C>T	ENSP00000514849.1:p.Gln425Ter
ENST00000357654.9:c.4666C>T MANE Select	ENSP00000350283.3:p.Gln1556Ter
ENST00000471181.7:c.4729C>T	ENSP00000418960.2:p.Gln1577Ter
ENST00000644379.1:c.1053C>T
ENST00000352993.7:c.1240C>T	ENSP00000312236.5:p.Gln414Ter
ENST00000357654.7:c.4666C>T	ENSP00000350283.3:p.Gln1556Ter
ENST00000461221.5:c.*4449C>T	ENSP00000418548.1:n.*4449C>T
ENST00000468300.5:c.1354C>T	ENSP00000417148.1:p.Gln452Ter
ENST00000471181.6:c.4729C>T	ENSP00000418960.2:p.Gln1577Ter
ENST00000478531.5:c.1354C>T	ENSP00000420412.1:p.Gln452Ter
ENST00000484087.5:c.979C>T	ENSP00000419481.1:p.Gln327Ter
ENST00000491747.6:c.1354C>T	ENSP00000420705.2:p.Gln452Ter
ENST00000493795.5:c.4525C>T	ENSP00000418775.1:p.Gln1509Ter
ENST00000493919.5:c.1216C>T	ENSP00000418819.1:p.Gln406Ter
ENST00000586385.5:c.5-10389C>T	ENSP00000465818.1:n.5-10389C>T
ENST00000591534.5:c.139C>T	ENSP00000467329.1:p.Gln47Ter
ENST00000591849.5:c.-98-24150C>T	ENSP00000465347.1:n.-98-24150C>T
NM_007294.3:c.4666C>T , LRG_292t1:c.4666C>T	NP_009225.1:p.Gln1556Ter
NM_007297.3:c.4525C>T	NP_009228.2:p.Gln1509Ter
NM_007298.3:c.1354C>T	NP_009229.2:p.Gln452Ter
NM_007299.3:c.1354C>T	NP_009230.2:p.Gln452Ter
NM_007300.3:c.4729C>T	NP_009231.2:p.Gln1577Ter
NR_027676.1:n.4802C>T
NM_007294.4:c.4666C>T MANE Select	NP_009225.1:p.Gln1556Ter
NM_007297.4:c.4525C>T	NP_009228.2:p.Gln1509Ter
NM_007299.4:c.1354C>T	NP_009230.2:p.Gln452Ter
NM_007300.4:c.4729C>T	NP_009231.2:p.Gln1577Ter
NR_027676.2:n.4843C>T