Canonical Allele Identifier: CA003084

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55319
• ClinVar RCV Id: RCV000112423
• dbSNP Id: rs80356926
• MyVariant Identifiers: chr17:g.41222998T>C (hg19) ; chr17:g.43070981T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070981T>C , CM000679.2:g.43070981T>C	GRCh38
NC_000017.10:g.41222998T>C , CM000679.1:g.41222998T>C	GRCh37
NC_000017.9:g.38476524T>C	NCBI36
NG_005905.2:g.147003A>G , LRG_292:g.147003A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4930A>G	ENSP00000417241.2:p.Arg1644Gly
ENST00000470026.6:c.4933A>G	ENSP00000419274.2:p.Arg1645Gly
ENST00000473961.6:c.4807A>G	ENSP00000420201.2:p.Arg1603Gly
ENST00000476777.6:c.4927A>G	ENSP00000417554.2:p.Arg1643Gly
ENST00000477152.6:c.4855A>G	ENSP00000419988.2:p.Arg1619Gly
ENST00000478531.6:c.1621A>G	ENSP00000420412.2:p.Arg541Gly
ENST00000489037.2:c.4855A>G	ENSP00000420781.2:p.Arg1619Gly
ENST00000493919.6:c.1483A>G	ENSP00000418819.2:p.Arg495Gly
ENST00000494123.6:c.4933A>G	ENSP00000419103.2:p.Arg1645Gly
ENST00000497488.2:c.4045A>G	ENSP00000418986.2:p.Arg1349Gly
ENST00000618469.2:c.4933A>G	ENSP00000478114.2:p.Arg1645Gly
ENST00000634433.2:c.4810A>G	ENSP00000489431.2:p.Arg1604Gly
ENST00000644379.2:c.4999A>G	ENSP00000496570.2:p.Arg1667Gly
ENST00000644555.2:c.1483A>G	ENSP00000494614.2:p.Arg495Gly
ENST00000652672.2:c.4792A>G	ENSP00000498906.2:p.Arg1598Gly
ENST00000484087.6:c.1495A>G	ENSP00000419481.2:p.Arg499Gly
ENST00000700182.1:c.1540A>G	ENSP00000514849.1:p.Arg514Gly
ENST00000357654.9:c.4933A>G MANE Select	ENSP00000350283.3:p.Arg1645Gly
ENST00000471181.7:c.4996A>G	ENSP00000418960.2:p.Arg1666Gly
ENST00000644379.1:c.1320A>G
ENST00000352993.7:c.1507A>G	ENSP00000312236.5:p.Arg503Gly
ENST00000357654.7:c.4933A>G	ENSP00000350283.3:p.Arg1645Gly
ENST00000461221.5:c.*4716A>G	ENSP00000418548.1:n.*4716A>G
ENST00000468300.5:c.1621A>G	ENSP00000417148.1:p.Arg541Gly
ENST00000471181.6:c.4996A>G	ENSP00000418960.2:p.Arg1666Gly
ENST00000472490.1:n.86A>G
ENST00000478531.5:c.1621A>G	ENSP00000420412.1:p.Arg541Gly
ENST00000484087.5:c.1246A>G	ENSP00000419481.1:p.Arg416Gly
ENST00000491747.6:c.1621A>G	ENSP00000420705.2:p.Arg541Gly
ENST00000493795.5:c.4792A>G	ENSP00000418775.1:p.Arg1598Gly
ENST00000493919.5:c.1483A>G	ENSP00000418819.1:p.Arg495Gly
ENST00000586385.5:c.5-7030A>G	ENSP00000465818.1:n.5-7030A>G
ENST00000591534.5:c.406A>G	ENSP00000467329.1:p.Arg136Gly
ENST00000591849.5:c.-98-20791A>G	ENSP00000465347.1:n.-98-20791A>G
NM_007294.3:c.4933A>G , LRG_292t1:c.4933A>G	NP_009225.1:p.Arg1645Gly
NM_007297.3:c.4792A>G	NP_009228.2:p.Arg1598Gly
NM_007298.3:c.1621A>G	NP_009229.2:p.Arg541Gly
NM_007299.3:c.1621A>G	NP_009230.2:p.Arg541Gly
NM_007300.3:c.4996A>G	NP_009231.2:p.Arg1666Gly
NR_027676.1:n.5069A>G
NM_007294.4:c.4933A>G MANE Select	NP_009225.1:p.Arg1645Gly
NM_007297.4:c.4792A>G	NP_009228.2:p.Arg1598Gly
NM_007299.4:c.1621A>G	NP_009230.2:p.Arg541Gly
NM_007300.4:c.4996A>G	NP_009231.2:p.Arg1666Gly
NR_027676.2:n.5110A>G