Canonical Allele Identifier: CA500231628

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868423
• ClinVar RCV Id: RCV001077321
• dbSNP Id: rs80356926
• MyVariant Identifiers: chr17:g.41222998T>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4930A>C	ENSP00000417241.2:p.Arg1644=
ENST00000470026.6:c.4933A>C	ENSP00000419274.2:p.Arg1645=
ENST00000473961.6:c.4807A>C	ENSP00000420201.2:p.Arg1603=
ENST00000476777.6:c.4927A>C	ENSP00000417554.2:p.Arg1643=
ENST00000477152.6:c.4855A>C	ENSP00000419988.2:p.Arg1619=
ENST00000478531.6:c.1621A>C	ENSP00000420412.2:p.Arg541=
ENST00000489037.2:c.4855A>C	ENSP00000420781.2:p.Arg1619=
ENST00000493919.6:c.1483A>C	ENSP00000418819.2:p.Arg495=
ENST00000494123.6:c.4933A>C	ENSP00000419103.2:p.Arg1645=
ENST00000497488.2:c.4045A>C	ENSP00000418986.2:p.Arg1349=
ENST00000618469.2:c.4933A>C	ENSP00000478114.2:p.Arg1645=
ENST00000634433.2:c.4810A>C	ENSP00000489431.2:p.Arg1604=
ENST00000644379.2:c.4999A>C	ENSP00000496570.2:p.Arg1667=
ENST00000644555.2:c.1483A>C	ENSP00000494614.2:p.Arg495=
ENST00000652672.2:c.4792A>C	ENSP00000498906.2:p.Arg1598=
ENST00000484087.6:c.1495A>C	ENSP00000419481.2:p.Arg499=
ENST00000700182.1:c.1540A>C	ENSP00000514849.1:p.Arg514=
ENST00000357654.9:c.4933A>C MANE Select	ENSP00000350283.3:p.Arg1645=
ENST00000471181.7:c.4996A>C	ENSP00000418960.2:p.Arg1666=
ENST00000644379.1:c.1320A>C
ENST00000352993.7:c.1507A>C	ENSP00000312236.5:p.Arg503=
ENST00000357654.7:c.4933A>C	ENSP00000350283.3:p.Arg1645=
ENST00000461221.5:c.*4716A>C	ENSP00000418548.1:n.*4716A>C
ENST00000468300.5:c.1621A>C	ENSP00000417148.1:p.Arg541=
ENST00000471181.6:c.4996A>C	ENSP00000418960.2:p.Arg1666=
ENST00000472490.1:n.86A>C
ENST00000478531.5:c.1621A>C	ENSP00000420412.1:p.Arg541=
ENST00000484087.5:c.1246A>C	ENSP00000419481.1:p.Arg416=
ENST00000491747.6:c.1621A>C	ENSP00000420705.2:p.Arg541=
ENST00000493795.5:c.4792A>C	ENSP00000418775.1:p.Arg1598=
ENST00000493919.5:c.1483A>C	ENSP00000418819.1:p.Arg495=
ENST00000586385.5:c.5-7030A>C	ENSP00000465818.1:n.5-7030A>C
ENST00000591534.5:c.406A>C	ENSP00000467329.1:p.Arg136=
ENST00000591849.5:c.-98-20791A>C	ENSP00000465347.1:n.-98-20791A>C
NM_007294.3:c.4933A>C , LRG_292t1:c.4933A>C	NP_009225.1:p.Arg1645=
NM_007297.3:c.4792A>C	NP_009228.2:p.Arg1598=
NM_007298.3:c.1621A>C	NP_009229.2:p.Arg541=
NM_007299.3:c.1621A>C	NP_009230.2:p.Arg541=
NM_007300.3:c.4996A>C	NP_009231.2:p.Arg1666=
NR_027676.1:n.5069A>C
NM_007294.4:c.4933A>C MANE Select	NP_009225.1:p.Arg1645=
NM_007297.4:c.4792A>C	NP_009228.2:p.Arg1598=
NM_007299.4:c.1621A>C	NP_009230.2:p.Arg541=
NM_007300.4:c.4996A>C	NP_009231.2:p.Arg1666=
NR_027676.2:n.5110A>C