Canonical Allele Identifier: CA10590139

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1506762
• ClinVar RCV Id: RCV002006965
• dbSNP Id: rs2152476968
• MyVariant Identifiers: chr17:g.41197695T>C (hg19) ; chr17:g.43045678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045678T>C , CM000679.2:g.43045678T>C	GRCh38
NC_000017.10:g.41197695T>C , CM000679.1:g.41197695T>C	GRCh37
NC_000017.9:g.38451221T>C	NCBI36
NG_005905.2:g.172306A>G , LRG_292:g.172306A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5589A>G	ENSP00000417241.2:p.Ter1863Trp
ENST00000470026.6:c.5592A>G	ENSP00000419274.2:p.Ter1864Trp
ENST00000473961.6:c.5466A>G	ENSP00000420201.2:p.Ter1822Trp
ENST00000476777.6:c.5586A>G	ENSP00000417554.2:p.Ter1862Trp
ENST00000477152.6:c.5514A>G	ENSP00000419988.2:p.Ter1838Trp
ENST00000478531.6:c.2280A>G	ENSP00000420412.2:p.Ter760Trp
ENST00000489037.2:c.5514A>G	ENSP00000420781.2:p.Ter1838Trp
ENST00000493919.6:c.2142A>G	ENSP00000418819.2:p.Ter714Trp
ENST00000494123.6:c.5592A>G	ENSP00000419103.2:p.Ter1864Trp
ENST00000497488.2:c.4704A>G	ENSP00000418986.2:p.Ter1568Trp
ENST00000618469.2:c.5592A>G	ENSP00000478114.2:p.Ter1864Trp
ENST00000634433.2:c.5469A>G	ENSP00000489431.2:p.Ter1823Trp
ENST00000644379.2:c.5658A>G	ENSP00000496570.2:p.Ter1886Trp
ENST00000644555.2:c.2142A>G	ENSP00000494614.2:p.Ter714Trp
ENST00000652672.2:c.5451A>G	ENSP00000498906.2:p.Ter1817Trp
ENST00000484087.6:c.2154A>G	ENSP00000419481.2:p.Ter718Trp
ENST00000700081.1:n.1475A>G
ENST00000700082.1:n.956A>G
ENST00000357654.9:c.5592A>G MANE Select	ENSP00000350283.3:p.Ter1864Trp
ENST00000471181.7:c.5655A>G	ENSP00000418960.2:p.Ter1885Trp
ENST00000644379.1:c.1979A>G
ENST00000352993.7:c.2166A>G	ENSP00000312236.5:p.Ter722Trp
ENST00000357654.7:c.5592A>G	ENSP00000350283.3:p.Ter1864Trp
ENST00000461221.5:c.*5375A>G	ENSP00000418548.1:n.*5375A>G
ENST00000468300.5:c.*106A>G	ENSP00000417148.1:n.*106A>G
ENST00000471181.6:c.5655A>G	ENSP00000418960.2:p.Ter1885Trp
ENST00000491747.6:c.2280A>G	ENSP00000420705.2:p.Ter760Trp
ENST00000493795.5:c.5451A>G	ENSP00000418775.1:p.Ter1817Trp
ENST00000586385.5:c.522A>G	ENSP00000465818.1:p.Ter174Trp
ENST00000591534.5:c.1065A>G	ENSP00000467329.1:p.Ter355Trp
ENST00000591849.5:c.291A>G	ENSP00000465347.1:p.Ter97Trp
NM_007294.3:c.5592A>G , LRG_292t1:c.5592A>G	NP_009225.1:p.Ter1864Trp
NM_007297.3:c.5451A>G	NP_009228.2:p.Ter1817Trp
NM_007298.3:c.2280A>G	NP_009229.2:p.Ter760Trp
NM_007299.3:c.*106A>G	NP_009230.2:n.*106A>G
NM_007300.3:c.5655A>G	NP_009231.2:p.Ter1885Trp
NR_027676.1:n.5728A>G
NM_007294.4:c.5592A>G MANE Select	NP_009225.1:p.Ter1864Trp
NM_007297.4:c.5451A>G	NP_009228.2:p.Ter1817Trp
NM_007299.4:c.*106A>G	NP_009230.2:n.*106A>G
NM_007300.4:c.5655A>G	NP_009231.2:p.Ter1885Trp
NR_027676.2:n.5769A>G