Canonical Allele Identifier: CA10592714

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 630636
• ClinVar RCV Id: RCV000776573
• dbSNP Id: rs1567779701
• MyVariant Identifiers: chr17:g.41228578C>T (hg19) ; chr17:g.43076561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076561C>T , CM000679.2:g.43076561C>T	GRCh38
NC_000017.10:g.41228578C>T , CM000679.1:g.41228578C>T	GRCh37
NC_000017.9:g.38482104C>T	NCBI36
NG_005905.2:g.141423G>A , LRG_292:g.141423G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4408G>A	ENSP00000417241.2:p.Gly1470Ser
ENST00000470026.6:c.4411G>A	ENSP00000419274.2:p.Gly1471Ser
ENST00000473961.6:c.4285G>A	ENSP00000420201.2:p.Gly1429Ser
ENST00000476777.6:c.4405G>A	ENSP00000417554.2:p.Gly1469Ser
ENST00000477152.6:c.4333G>A	ENSP00000419988.2:p.Gly1445Ser
ENST00000478531.6:c.1099G>A	ENSP00000420412.2:p.Gly367Ser
ENST00000489037.2:c.4333G>A	ENSP00000420781.2:p.Gly1445Ser
ENST00000493919.6:c.961G>A	ENSP00000418819.2:p.Gly321Ser
ENST00000494123.6:c.4411G>A	ENSP00000419103.2:p.Gly1471Ser
ENST00000497488.2:c.3523G>A	ENSP00000418986.2:p.Gly1175Ser
ENST00000618469.2:c.4411G>A	ENSP00000478114.2:p.Gly1471Ser
ENST00000634433.2:c.4288G>A	ENSP00000489431.2:p.Gly1430Ser
ENST00000644379.2:c.4477G>A	ENSP00000496570.2:p.Gly1493Ser
ENST00000644555.2:c.961G>A	ENSP00000494614.2:p.Gly321Ser
ENST00000652672.2:c.4270G>A	ENSP00000498906.2:p.Gly1424Ser
ENST00000484087.6:c.973G>A	ENSP00000419481.2:p.Gly325Ser
ENST00000700182.1:c.1018G>A	ENSP00000514849.1:p.Gly340Ser
ENST00000357654.9:c.4411G>A MANE Select	ENSP00000350283.3:p.Gly1471Ser
ENST00000471181.7:c.4474G>A	ENSP00000418960.2:p.Gly1492Ser
ENST00000644379.1:c.798G>A
ENST00000352993.7:c.985G>A	ENSP00000312236.5:p.Gly329Ser
ENST00000357654.7:c.4411G>A	ENSP00000350283.3:p.Gly1471Ser
ENST00000461221.5:c.*4194G>A	ENSP00000418548.1:n.*4194G>A
ENST00000461574.1:c.702G>A
ENST00000468300.5:c.1099G>A	ENSP00000417148.1:p.Gly367Ser
ENST00000471181.6:c.4474G>A	ENSP00000418960.2:p.Gly1492Ser
ENST00000478531.5:c.1099G>A	ENSP00000420412.1:p.Gly367Ser
ENST00000484087.5:c.724G>A	ENSP00000419481.1:p.Gly242Ser
ENST00000487825.5:c.727G>A	ENSP00000418212.1:p.Gly243Ser
ENST00000491747.6:c.1099G>A	ENSP00000420705.2:p.Gly367Ser
ENST00000493795.5:c.4270G>A	ENSP00000418775.1:p.Gly1424Ser
ENST00000493919.5:c.961G>A	ENSP00000418819.1:p.Gly321Ser
ENST00000586385.5:c.5-12610G>A	ENSP00000465818.1:n.5-12610G>A
ENST00000591534.5:c.-43-2040G>A	ENSP00000467329.1:n.-43-2040G>A
ENST00000591849.5:c.-98-26371G>A	ENSP00000465347.1:n.-98-26371G>A
ENST00000621897.1:n.302G>A
NM_007294.3:c.4411G>A , LRG_292t1:c.4411G>A	NP_009225.1:p.Gly1471Ser
NM_007297.3:c.4270G>A	NP_009228.2:p.Gly1424Ser
NM_007298.3:c.1099G>A	NP_009229.2:p.Gly367Ser
NM_007299.3:c.1099G>A	NP_009230.2:p.Gly367Ser
NM_007300.3:c.4474G>A	NP_009231.2:p.Gly1492Ser
NR_027676.1:n.4547G>A
NM_007294.4:c.4411G>A MANE Select	NP_009225.1:p.Gly1471Ser
NM_007297.4:c.4270G>A	NP_009228.2:p.Gly1424Ser
NM_007299.4:c.1099G>A	NP_009230.2:p.Gly367Ser
NM_007300.4:c.4474G>A	NP_009231.2:p.Gly1492Ser
NR_027676.2:n.4588G>A