Canonical Allele Identifier: CA16620422

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 420042
• ClinVar RCV Id: RCV000482214 ; RCV000559495 ; RCV002329148
• dbSNP Id: rs878853265
• MyVariant Identifiers: chr17:g.41223248G>C (hg19) ; chr17:g.43071231G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071231G>C , CM000679.2:g.43071231G>C	GRCh38
NC_000017.10:g.41223248G>C , CM000679.1:g.41223248G>C	GRCh37
NC_000017.9:g.38476774G>C	NCBI36
NG_005905.2:g.146753C>G , LRG_292:g.146753C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4680C>G	ENSP00000417241.2:p.Thr1560=
ENST00000470026.6:c.4683C>G	ENSP00000419274.2:p.Thr1561=
ENST00000473961.6:c.4557C>G	ENSP00000420201.2:p.Thr1519=
ENST00000476777.6:c.4677C>G	ENSP00000417554.2:p.Thr1559=
ENST00000477152.6:c.4605C>G	ENSP00000419988.2:p.Thr1535=
ENST00000478531.6:c.1371C>G	ENSP00000420412.2:p.Thr457=
ENST00000489037.2:c.4605C>G	ENSP00000420781.2:p.Thr1535=
ENST00000493919.6:c.1233C>G	ENSP00000418819.2:p.Thr411=
ENST00000494123.6:c.4683C>G	ENSP00000419103.2:p.Thr1561=
ENST00000497488.2:c.3795C>G	ENSP00000418986.2:p.Thr1265=
ENST00000618469.2:c.4683C>G	ENSP00000478114.2:p.Thr1561=
ENST00000634433.2:c.4560C>G	ENSP00000489431.2:p.Thr1520=
ENST00000644379.2:c.4749C>G	ENSP00000496570.2:p.Thr1583=
ENST00000644555.2:c.1233C>G	ENSP00000494614.2:p.Thr411=
ENST00000652672.2:c.4542C>G	ENSP00000498906.2:p.Thr1514=
ENST00000484087.6:c.1245C>G	ENSP00000419481.2:p.Thr415=
ENST00000700182.1:c.1290C>G	ENSP00000514849.1:p.Thr430=
ENST00000357654.9:c.4683C>G MANE Select	ENSP00000350283.3:p.Thr1561=
ENST00000471181.7:c.4746C>G	ENSP00000418960.2:p.Thr1582=
ENST00000644379.1:c.1070C>G
ENST00000352993.7:c.1257C>G	ENSP00000312236.5:p.Thr419=
ENST00000357654.7:c.4683C>G	ENSP00000350283.3:p.Thr1561=
ENST00000461221.5:c.*4466C>G	ENSP00000418548.1:n.*4466C>G
ENST00000468300.5:c.1371C>G	ENSP00000417148.1:p.Thr457=
ENST00000471181.6:c.4746C>G	ENSP00000418960.2:p.Thr1582=
ENST00000478531.5:c.1371C>G	ENSP00000420412.1:p.Thr457=
ENST00000484087.5:c.996C>G	ENSP00000419481.1:p.Thr332=
ENST00000491747.6:c.1371C>G	ENSP00000420705.2:p.Thr457=
ENST00000493795.5:c.4542C>G	ENSP00000418775.1:p.Thr1514=
ENST00000493919.5:c.1233C>G	ENSP00000418819.1:p.Thr411=
ENST00000586385.5:c.5-7280C>G	ENSP00000465818.1:n.5-7280C>G
ENST00000591534.5:c.156C>G	ENSP00000467329.1:p.Thr52=
ENST00000591849.5:c.-98-21041C>G	ENSP00000465347.1:n.-98-21041C>G
NM_007294.3:c.4683C>G , LRG_292t1:c.4683C>G	NP_009225.1:p.Thr1561=
NM_007297.3:c.4542C>G	NP_009228.2:p.Thr1514=
NM_007298.3:c.1371C>G	NP_009229.2:p.Thr457=
NM_007299.3:c.1371C>G	NP_009230.2:p.Thr457=
NM_007300.3:c.4746C>G	NP_009231.2:p.Thr1582=
NR_027676.1:n.4819C>G
NM_007294.4:c.4683C>G MANE Select	NP_009225.1:p.Thr1561=
NM_007297.4:c.4542C>G	NP_009228.2:p.Thr1514=
NM_007299.4:c.1371C>G	NP_009230.2:p.Thr457=
NM_007300.4:c.4746C>G	NP_009231.2:p.Thr1582=
NR_027676.2:n.4860C>G