Canonical Allele Identifier: CA10590177

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 462676
• ClinVar RCV Id: RCV000554074
• dbSNP Id: rs1555574342
• gnomAD v4: 17-43045695-G-T
• MyVariant Identifiers: chr17:g.41197712G>T (hg19) ; chr17:g.43045695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045695G>T , CM000679.2:g.43045695G>T	GRCh38
NC_000017.10:g.41197712G>T , CM000679.1:g.41197712G>T	GRCh37
NC_000017.9:g.38451238G>T	NCBI36
NG_005905.2:g.172289C>A , LRG_292:g.172289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5572C>A	ENSP00000417241.2:p.Pro1858Thr
ENST00000470026.6:c.5575C>A	ENSP00000419274.2:p.Pro1859Thr
ENST00000473961.6:c.5449C>A	ENSP00000420201.2:p.Pro1817Thr
ENST00000476777.6:c.5569C>A	ENSP00000417554.2:p.Pro1857Thr
ENST00000477152.6:c.5497C>A	ENSP00000419988.2:p.Pro1833Thr
ENST00000478531.6:c.2263C>A	ENSP00000420412.2:p.Pro755Thr
ENST00000489037.2:c.5497C>A	ENSP00000420781.2:p.Pro1833Thr
ENST00000493919.6:c.2125C>A	ENSP00000418819.2:p.Pro709Thr
ENST00000494123.6:c.5575C>A	ENSP00000419103.2:p.Pro1859Thr
ENST00000497488.2:c.4687C>A	ENSP00000418986.2:p.Pro1563Thr
ENST00000618469.2:c.5575C>A	ENSP00000478114.2:p.Pro1859Thr
ENST00000634433.2:c.5452C>A	ENSP00000489431.2:p.Pro1818Thr
ENST00000644379.2:c.5641C>A	ENSP00000496570.2:p.Pro1881Thr
ENST00000644555.2:c.2125C>A	ENSP00000494614.2:p.Pro709Thr
ENST00000652672.2:c.5434C>A	ENSP00000498906.2:p.Pro1812Thr
ENST00000484087.6:c.2137C>A	ENSP00000419481.2:p.Pro713Thr
ENST00000700081.1:n.1458C>A
ENST00000700082.1:n.939C>A
ENST00000357654.9:c.5575C>A MANE Select	ENSP00000350283.3:p.Pro1859Thr
ENST00000471181.7:c.5638C>A	ENSP00000418960.2:p.Pro1880Thr
ENST00000644379.1:c.1962C>A
ENST00000352993.7:c.2149C>A	ENSP00000312236.5:p.Pro717Thr
ENST00000357654.7:c.5575C>A	ENSP00000350283.3:p.Pro1859Thr
ENST00000461221.5:c.*5358C>A	ENSP00000418548.1:n.*5358C>A
ENST00000468300.5:c.*89C>A	ENSP00000417148.1:n.*89C>A
ENST00000471181.6:c.5638C>A	ENSP00000418960.2:p.Pro1880Thr
ENST00000491747.6:c.2263C>A	ENSP00000420705.2:p.Pro755Thr
ENST00000493795.5:c.5434C>A	ENSP00000418775.1:p.Pro1812Thr
ENST00000586385.5:c.505C>A	ENSP00000465818.1:p.Pro169Thr
ENST00000591534.5:c.1048C>A	ENSP00000467329.1:p.Pro350Thr
ENST00000591849.5:c.274C>A	ENSP00000465347.1:p.Pro92Thr
NM_007294.3:c.5575C>A , LRG_292t1:c.5575C>A	NP_009225.1:p.Pro1859Thr
NM_007297.3:c.5434C>A	NP_009228.2:p.Pro1812Thr
NM_007298.3:c.2263C>A	NP_009229.2:p.Pro755Thr
NM_007299.3:c.*89C>A	NP_009230.2:n.*89C>A
NM_007300.3:c.5638C>A	NP_009231.2:p.Pro1880Thr
NR_027676.1:n.5711C>A
NM_007294.4:c.5575C>A MANE Select	NP_009225.1:p.Pro1859Thr
NM_007297.4:c.5434C>A	NP_009228.2:p.Pro1812Thr
NM_007299.4:c.*89C>A	NP_009230.2:n.*89C>A
NM_007300.4:c.5638C>A	NP_009231.2:p.Pro1880Thr
NR_027676.2:n.5752C>A