Canonical Allele Identifier: CA16608431

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 379005
• ClinVar RCV Id: RCV000430346 ; RCV000942395 ; RCV001072245 ; RCV002348159
• dbSNP Id: rs1057520459
• MyVariant Identifiers: chr17:g.41197785G>A (hg19) ; chr17:g.43045768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045768G>A , CM000679.2:g.43045768G>A	GRCh38
NC_000017.10:g.41197785G>A , CM000679.1:g.41197785G>A	GRCh37
NC_000017.9:g.38451311G>A	NCBI36
NG_005905.2:g.172216C>T , LRG_292:g.172216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5499C>T	ENSP00000417241.2:p.Thr1833=
ENST00000470026.6:c.5502C>T	ENSP00000419274.2:p.Thr1834=
ENST00000473961.6:c.5376C>T	ENSP00000420201.2:p.Thr1792=
ENST00000476777.6:c.5496C>T	ENSP00000417554.2:p.Thr1832=
ENST00000477152.6:c.5424C>T	ENSP00000419988.2:p.Thr1808=
ENST00000478531.6:c.2190C>T	ENSP00000420412.2:p.Thr730=
ENST00000489037.2:c.5424C>T	ENSP00000420781.2:p.Thr1808=
ENST00000493919.6:c.2052C>T	ENSP00000418819.2:p.Thr684=
ENST00000494123.6:c.5502C>T	ENSP00000419103.2:p.Thr1834=
ENST00000497488.2:c.4614C>T	ENSP00000418986.2:p.Thr1538=
ENST00000618469.2:c.5502C>T	ENSP00000478114.2:p.Thr1834=
ENST00000634433.2:c.5379C>T	ENSP00000489431.2:p.Thr1793=
ENST00000644379.2:c.5568C>T	ENSP00000496570.2:p.Thr1856=
ENST00000644555.2:c.2052C>T	ENSP00000494614.2:p.Thr684=
ENST00000652672.2:c.5361C>T	ENSP00000498906.2:p.Thr1787=
ENST00000484087.6:c.2064C>T	ENSP00000419481.2:p.Thr688=
ENST00000700081.1:n.1385C>T
ENST00000700082.1:n.866C>T
ENST00000357654.9:c.5502C>T MANE Select	ENSP00000350283.3:p.Thr1834=
ENST00000471181.7:c.5565C>T	ENSP00000418960.2:p.Thr1855=
ENST00000644379.1:c.1889C>T
ENST00000352993.7:c.2076C>T	ENSP00000312236.5:p.Thr692=
ENST00000357654.7:c.5502C>T	ENSP00000350283.3:p.Thr1834=
ENST00000461221.5:c.*5285C>T	ENSP00000418548.1:n.*5285C>T
ENST00000468300.5:c.*16C>T	ENSP00000417148.1:n.*16C>T
ENST00000471181.6:c.5565C>T	ENSP00000418960.2:p.Thr1855=
ENST00000491747.6:c.2190C>T	ENSP00000420705.2:p.Thr730=
ENST00000493795.5:c.5361C>T	ENSP00000418775.1:p.Thr1787=
ENST00000586385.5:c.432C>T	ENSP00000465818.1:p.Thr144=
ENST00000591534.5:c.975C>T	ENSP00000467329.1:p.Thr325=
ENST00000591849.5:c.201C>T	ENSP00000465347.1:p.Thr67=
NM_007294.3:c.5502C>T , LRG_292t1:c.5502C>T	NP_009225.1:p.Thr1834=
NM_007297.3:c.5361C>T	NP_009228.2:p.Thr1787=
NM_007298.3:c.2190C>T	NP_009229.2:p.Thr730=
NM_007299.3:c.*16C>T	NP_009230.2:n.*16C>T
NM_007300.3:c.5565C>T	NP_009231.2:p.Thr1855=
NR_027676.1:n.5638C>T
NM_007294.4:c.5502C>T MANE Select	NP_009225.1:p.Thr1834=
NM_007297.4:c.5361C>T	NP_009228.2:p.Thr1787=
NM_007299.4:c.*16C>T	NP_009230.2:n.*16C>T
NM_007300.4:c.5565C>T	NP_009231.2:p.Thr1855=
NR_027676.2:n.5679C>T