Canonical Allele Identifier: CA10590149

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 631316
• ClinVar RCV Id: RCV000777498 ; RCV001235691
• dbSNP Id: rs1567756242
• gnomAD v4: 17-43045682-T-C
• MyVariant Identifiers: chr17:g.41197699T>C (hg19) ; chr17:g.43045682T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045682T>C , CM000679.2:g.43045682T>C	GRCh38
NC_000017.10:g.41197699T>C , CM000679.1:g.41197699T>C	GRCh37
NC_000017.9:g.38451225T>C	NCBI36
NG_005905.2:g.172302A>G , LRG_292:g.172302A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5585A>G	ENSP00000417241.2:p.Tyr1862Cys
ENST00000470026.6:c.5588A>G	ENSP00000419274.2:p.Tyr1863Cys
ENST00000473961.6:c.5462A>G	ENSP00000420201.2:p.Tyr1821Cys
ENST00000476777.6:c.5582A>G	ENSP00000417554.2:p.Tyr1861Cys
ENST00000477152.6:c.5510A>G	ENSP00000419988.2:p.Tyr1837Cys
ENST00000478531.6:c.2276A>G	ENSP00000420412.2:p.Tyr759Cys
ENST00000489037.2:c.5510A>G	ENSP00000420781.2:p.Tyr1837Cys
ENST00000493919.6:c.2138A>G	ENSP00000418819.2:p.Tyr713Cys
ENST00000494123.6:c.5588A>G	ENSP00000419103.2:p.Tyr1863Cys
ENST00000497488.2:c.4700A>G	ENSP00000418986.2:p.Tyr1567Cys
ENST00000618469.2:c.5588A>G	ENSP00000478114.2:p.Tyr1863Cys
ENST00000634433.2:c.5465A>G	ENSP00000489431.2:p.Tyr1822Cys
ENST00000644379.2:c.5654A>G	ENSP00000496570.2:p.Tyr1885Cys
ENST00000644555.2:c.2138A>G	ENSP00000494614.2:p.Tyr713Cys
ENST00000652672.2:c.5447A>G	ENSP00000498906.2:p.Tyr1816Cys
ENST00000484087.6:c.2150A>G	ENSP00000419481.2:p.Tyr717Cys
ENST00000700081.1:n.1471A>G
ENST00000700082.1:n.952A>G
ENST00000357654.9:c.5588A>G MANE Select	ENSP00000350283.3:p.Tyr1863Cys
ENST00000471181.7:c.5651A>G	ENSP00000418960.2:p.Tyr1884Cys
ENST00000644379.1:c.1975A>G
ENST00000352993.7:c.2162A>G	ENSP00000312236.5:p.Tyr721Cys
ENST00000357654.7:c.5588A>G	ENSP00000350283.3:p.Tyr1863Cys
ENST00000461221.5:c.*5371A>G	ENSP00000418548.1:n.*5371A>G
ENST00000468300.5:c.*102A>G	ENSP00000417148.1:n.*102A>G
ENST00000471181.6:c.5651A>G	ENSP00000418960.2:p.Tyr1884Cys
ENST00000491747.6:c.2276A>G	ENSP00000420705.2:p.Tyr759Cys
ENST00000493795.5:c.5447A>G	ENSP00000418775.1:p.Tyr1816Cys
ENST00000586385.5:c.518A>G	ENSP00000465818.1:p.Tyr173Cys
ENST00000591534.5:c.1061A>G	ENSP00000467329.1:p.Tyr354Cys
ENST00000591849.5:c.287A>G	ENSP00000465347.1:p.Tyr96Cys
NM_007294.3:c.5588A>G , LRG_292t1:c.5588A>G	NP_009225.1:p.Tyr1863Cys
NM_007297.3:c.5447A>G	NP_009228.2:p.Tyr1816Cys
NM_007298.3:c.2276A>G	NP_009229.2:p.Tyr759Cys
NM_007299.3:c.*102A>G	NP_009230.2:n.*102A>G
NM_007300.3:c.5651A>G	NP_009231.2:p.Tyr1884Cys
NR_027676.1:n.5724A>G
NM_007294.4:c.5588A>G MANE Select	NP_009225.1:p.Tyr1863Cys
NM_007297.4:c.5447A>G	NP_009228.2:p.Tyr1816Cys
NM_007299.4:c.*102A>G	NP_009230.2:n.*102A>G
NM_007300.4:c.5651A>G	NP_009231.2:p.Tyr1884Cys
NR_027676.2:n.5765A>G