Canonical Allele Identifier: CA10580663

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 229940
• ClinVar RCV Id: RCV000218862 ; RCV000817719
• dbSNP Id: rs876658285
• gnomAD v4: 17-43094035-G-A
• MyVariant Identifiers: chr17:g.41246052G>A (hg19) ; chr17:g.43094035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094035G>A , CM000679.2:g.43094035G>A	GRCh38
NC_000017.10:g.41246052G>A , CM000679.1:g.41246052G>A	GRCh37
NC_000017.9:g.38499578G>A	NCBI36
NG_005905.2:g.123949C>T , LRG_292:g.123949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1560C>T
ENST00000461574.2:c.1496C>T	ENSP00000417241.2:p.Thr499Ile
ENST00000470026.6:c.1496C>T	ENSP00000419274.2:p.Thr499Ile
ENST00000473961.6:c.1370C>T	ENSP00000420201.2:p.Thr457Ile
ENST00000476777.6:c.1493C>T	ENSP00000417554.2:p.Thr498Ile
ENST00000477152.6:c.1418C>T	ENSP00000419988.2:p.Thr473Ile
ENST00000478531.6:c.784+709C>T	ENSP00000420412.2:n.784+709C>T
ENST00000489037.2:c.1418C>T	ENSP00000420781.2:p.Thr473Ile
ENST00000493919.6:c.646+709C>T	ENSP00000418819.2:n.646+709C>T
ENST00000494123.6:c.1496C>T	ENSP00000419103.2:p.Thr499Ile
ENST00000497488.2:c.608C>T	ENSP00000418986.2:p.Thr203Ile
ENST00000618469.2:c.1496C>T	ENSP00000478114.2:p.Thr499Ile
ENST00000634433.2:c.1373C>T	ENSP00000489431.2:p.Thr458Ile
ENST00000644379.2:c.1496C>T	ENSP00000496570.2:p.Thr499Ile
ENST00000644555.2:c.646+709C>T	ENSP00000494614.2:n.646+709C>T
ENST00000652672.2:c.1355C>T	ENSP00000498906.2:p.Thr452Ile
ENST00000484087.6:c.664+709C>T	ENSP00000419481.2:n.664+709C>T
ENST00000700182.1:c.706+709C>T	ENSP00000514849.1:n.706+709C>T
ENST00000700183.1:c.*1504C>T	ENSP00000514850.1:n.*1504C>T
ENST00000357654.9:c.1496C>T MANE Select	ENSP00000350283.3:p.Thr499Ile
ENST00000471181.7:c.1496C>T	ENSP00000418960.2:p.Thr499Ile
ENST00000652672.1:c.1355C>T	ENSP00000498906.1:p.Thr452Ile
ENST00000352993.7:c.670+1811C>T	ENSP00000312236.5:n.670+1811C>T
ENST00000354071.7:c.1496C>T	ENSP00000326002.7:p.Thr499Ile
ENST00000357654.7:c.1496C>T	ENSP00000350283.3:p.Thr499Ile
ENST00000412061.3:c.847C>T
ENST00000461221.5:c.*1279C>T	ENSP00000418548.1:n.*1279C>T
ENST00000468300.5:c.787+709C>T	ENSP00000417148.1:n.787+709C>T
ENST00000470026.5:c.1496C>T	ENSP00000419274.1:p.Thr499Ile
ENST00000471181.6:c.1496C>T	ENSP00000418960.2:p.Thr499Ile
ENST00000477152.5:c.1418C>T	ENSP00000419988.1:p.Thr473Ile
ENST00000478531.5:c.784+709C>T	ENSP00000420412.1:n.784+709C>T
ENST00000484087.5:c.409+709C>T	ENSP00000419481.1:n.409+709C>T
ENST00000487825.5:c.412+709C>T	ENSP00000418212.1:n.412+709C>T
ENST00000491747.6:c.787+709C>T	ENSP00000420705.2:n.787+709C>T
ENST00000493795.5:c.1355C>T	ENSP00000418775.1:p.Thr452Ile
ENST00000493919.5:c.646+709C>T	ENSP00000418819.1:n.646+709C>T
ENST00000586385.5:c.5-30084C>T	ENSP00000465818.1:n.5-30084C>T
ENST00000591534.5:c.-43-19514C>T	ENSP00000467329.1:n.-43-19514C>T
ENST00000591849.5:c.-99+31236C>T	ENSP00000465347.1:n.-99+31236C>T
ENST00000634433.1:c.1373C>T	ENSP00000489431.1:p.Thr458Ile
NM_007294.3:c.1496C>T , LRG_292t1:c.1496C>T	NP_009225.1:p.Thr499Ile
NM_007297.3:c.1355C>T	NP_009228.2:p.Thr452Ile
NM_007298.3:c.787+709C>T	NP_009229.2:n.787+709C>T
NM_007299.3:c.787+709C>T	NP_009230.2:n.787+709C>T
NM_007300.3:c.1496C>T	NP_009231.2:p.Thr499Ile
NR_027676.1:n.1632C>T
NM_007294.4:c.1496C>T MANE Select	NP_009225.1:p.Thr499Ile
NM_007297.4:c.1355C>T	NP_009228.2:p.Thr452Ile
NM_007299.4:c.787+709C>T	NP_009230.2:n.787+709C>T
NM_007300.4:c.1496C>T	NP_009231.2:p.Thr499Ile
NR_027676.2:n.1673C>T