Canonical Allele Identifier: CA10593006

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1491600
• ClinVar RCV Id: RCV001988761 ; RCV002331578
• dbSNP Id: rs1555583984
• gnomAD v4: 17-43082404-C-T
• MyVariant Identifiers: chr17:g.41234421C>T (hg19) ; chr17:g.43082404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082404C>T , CM000679.2:g.43082404C>T	GRCh38
NC_000017.10:g.41234421C>T , CM000679.1:g.41234421C>T	GRCh37
NC_000017.9:g.38487947C>T	NCBI36
NG_005905.2:g.135580G>A , LRG_292:g.135580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4357G>A	ENSP00000417241.2:p.Val1453Ile
ENST00000470026.6:c.4357G>A	ENSP00000419274.2:p.Ala1453Thr
ENST00000473961.6:c.4231G>A	ENSP00000420201.2:p.Ala1411Thr
ENST00000476777.6:c.4351G>A	ENSP00000417554.2:p.Ala1451Thr
ENST00000477152.6:c.4279G>A	ENSP00000419988.2:p.Ala1427Thr
ENST00000478531.6:c.1045G>A	ENSP00000420412.2:p.Ala349Thr
ENST00000489037.2:c.4279G>A	ENSP00000420781.2:p.Ala1427Thr
ENST00000493919.6:c.907G>A	ENSP00000418819.2:p.Ala303Thr
ENST00000494123.6:c.4357G>A	ENSP00000419103.2:p.Ala1453Thr
ENST00000497488.2:c.3469G>A	ENSP00000418986.2:p.Ala1157Thr
ENST00000618469.2:c.4357G>A	ENSP00000478114.2:p.Ala1453Thr
ENST00000634433.2:c.4234G>A	ENSP00000489431.2:p.Ala1412Thr
ENST00000644379.2:c.4357G>A	ENSP00000496570.2:p.Asp1453Asn
ENST00000644555.2:c.907G>A	ENSP00000494614.2:p.Ala303Thr
ENST00000652672.2:c.4216G>A	ENSP00000498906.2:p.Ala1406Thr
ENST00000484087.6:c.922G>A	ENSP00000419481.2:p.Val308Ile
ENST00000700182.1:c.967G>A	ENSP00000514849.1:p.Val323Ile
ENST00000357654.9:c.4357G>A MANE Select	ENSP00000350283.3:p.Ala1453Thr
ENST00000471181.7:c.4357G>A	ENSP00000418960.2:p.Asp1453Asn
ENST00000644379.1:c.678G>A
ENST00000352993.7:c.931G>A	ENSP00000312236.5:p.Ala311Thr
ENST00000357654.7:c.4357G>A	ENSP00000350283.3:p.Ala1453Thr
ENST00000461221.5:c.*4140G>A	ENSP00000418548.1:n.*4140G>A
ENST00000461574.1:c.651G>A
ENST00000468300.5:c.1048G>A	ENSP00000417148.1:p.Val350Ile
ENST00000471181.6:c.4357G>A	ENSP00000418960.2:p.Asp1453Asn
ENST00000478531.5:c.1045G>A	ENSP00000420412.1:p.Ala349Thr
ENST00000484087.5:c.670G>A	ENSP00000419481.1:p.Ala224Thr
ENST00000487825.5:c.673G>A	ENSP00000418212.1:p.Ala225Thr
ENST00000491747.6:c.1048G>A	ENSP00000420705.2:p.Val350Ile
ENST00000493795.5:c.4216G>A	ENSP00000418775.1:p.Ala1406Thr
ENST00000493919.5:c.907G>A	ENSP00000418819.1:p.Ala303Thr
ENST00000586385.5:c.5-18453G>A	ENSP00000465818.1:n.5-18453G>A
ENST00000591534.5:c.-43-7883G>A	ENSP00000467329.1:n.-43-7883G>A
ENST00000591849.5:c.-98-32214G>A	ENSP00000465347.1:n.-98-32214G>A
ENST00000621897.1:n.251G>A
NM_007294.3:c.4357G>A , LRG_292t1:c.4357G>A	NP_009225.1:p.Ala1453Thr
NM_007297.3:c.4216G>A	NP_009228.2:p.Ala1406Thr
NM_007298.3:c.1048G>A	NP_009229.2:p.Val350Ile
NM_007299.3:c.1048G>A	NP_009230.2:p.Val350Ile
NM_007300.3:c.4357G>A	NP_009231.2:p.Asp1453Asn
NR_027676.1:n.4493G>A
NM_007294.4:c.4357G>A MANE Select	NP_009225.1:p.Ala1453Thr
NM_007297.4:c.4216G>A	NP_009228.2:p.Ala1406Thr
NM_007299.4:c.1048G>A	NP_009230.2:p.Val350Ile
NM_007300.4:c.4357G>A	NP_009231.2:p.Asp1453Asn
NR_027676.2:n.4534G>A