Canonical Allele Identifier: CA10590685

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868049
• ClinVar RCV Id: RCV001076867
• dbSNP Id: rs2051075653
• gnomAD v4: 17-43049132-T-C
• MyVariant Identifiers: chr17:g.41201149T>C (hg19) ; chr17:g.43049132T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049132T>C , CM000679.2:g.43049132T>C	GRCh38
NC_000017.10:g.41201149T>C , CM000679.1:g.41201149T>C	GRCh37
NC_000017.9:g.38454675T>C	NCBI36
NG_005905.2:g.168852A>G , LRG_292:g.168852A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5392A>G	ENSP00000417241.2:p.Thr1798Ala
ENST00000470026.6:c.5395A>G	ENSP00000419274.2:p.Thr1799Ala
ENST00000473961.6:c.5269A>G	ENSP00000420201.2:p.Thr1757Ala
ENST00000476777.6:c.5389A>G	ENSP00000417554.2:p.Thr1797Ala
ENST00000477152.6:c.5317A>G	ENSP00000419988.2:p.Thr1773Ala
ENST00000478531.6:c.2083A>G	ENSP00000420412.2:p.Thr695Ala
ENST00000489037.2:c.5317A>G	ENSP00000420781.2:p.Thr1773Ala
ENST00000493919.6:c.1945A>G	ENSP00000418819.2:p.Thr649Ala
ENST00000494123.6:c.5395A>G	ENSP00000419103.2:p.Thr1799Ala
ENST00000497488.2:c.4507A>G	ENSP00000418986.2:p.Thr1503Ala
ENST00000618469.2:c.5395A>G	ENSP00000478114.2:p.Thr1799Ala
ENST00000634433.2:c.5272A>G	ENSP00000489431.2:p.Thr1758Ala
ENST00000644379.2:c.5461A>G	ENSP00000496570.2:p.Thr1821Ala
ENST00000644555.2:c.1945A>G	ENSP00000494614.2:p.Thr649Ala
ENST00000652672.2:c.5254A>G	ENSP00000498906.2:p.Thr1752Ala
ENST00000484087.6:c.1957A>G	ENSP00000419481.2:p.Thr653Ala
ENST00000700081.1:n.1278A>G
ENST00000357654.9:c.5395A>G MANE Select	ENSP00000350283.3:p.Thr1799Ala
ENST00000471181.7:c.5458A>G	ENSP00000418960.2:p.Thr1820Ala
ENST00000644379.1:c.1782A>G
ENST00000352993.7:c.1969A>G	ENSP00000312236.5:p.Thr657Ala
ENST00000357654.7:c.5395A>G	ENSP00000350283.3:p.Thr1799Ala
ENST00000461221.5:c.*5178A>G	ENSP00000418548.1:n.*5178A>G
ENST00000468300.5:c.2021-1429A>G	ENSP00000417148.1:n.2021-1429A>G
ENST00000471181.6:c.5458A>G	ENSP00000418960.2:p.Thr1820Ala
ENST00000491747.6:c.2083A>G	ENSP00000420705.2:p.Thr695Ala
ENST00000493795.5:c.5254A>G	ENSP00000418775.1:p.Thr1752Ala
ENST00000586385.5:c.325A>G	ENSP00000465818.1:p.Thr109Ala
ENST00000591534.5:c.868A>G	ENSP00000467329.1:p.Thr290Ala
ENST00000591849.5:c.94A>G	ENSP00000465347.1:p.Thr32Ala
NM_007294.3:c.5395A>G , LRG_292t1:c.5395A>G	NP_009225.1:p.Thr1799Ala
NM_007297.3:c.5254A>G	NP_009228.2:p.Thr1752Ala
NM_007298.3:c.2083A>G	NP_009229.2:p.Thr695Ala
NM_007299.3:c.2021-1429A>G	NP_009230.2:n.2021-1429A>G
NM_007300.3:c.5458A>G	NP_009231.2:p.Thr1820Ala
NR_027676.1:n.5531A>G
NM_007294.4:c.5395A>G MANE Select	NP_009225.1:p.Thr1799Ala
NM_007297.4:c.5254A>G	NP_009228.2:p.Thr1752Ala
NM_007299.4:c.2021-1429A>G	NP_009230.2:n.2021-1429A>G
NM_007300.4:c.5458A>G	NP_009231.2:p.Thr1820Ala
NR_027676.2:n.5572A>G