Canonical Allele Identifier: CA053683

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 427317
• ClinVar RCV Id: RCV000494835 ; RCV002526048 ; RCV000774936
• dbSNP Id: rs751856943
• ExAC: 17:41219692 G / A
• gnomAD v2: 17-41219692-G-A
• gnomAD v4: 17-43067675-G-A
• MyVariant Identifiers: chr17:g.41219692G>A (hg19) ; chr17:g.43067675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067675G>A , CM000679.2:g.43067675G>A	GRCh38
NC_000017.10:g.41219692G>A , CM000679.1:g.41219692G>A	GRCh37
NC_000017.9:g.38473218G>A	NCBI36
NG_005905.2:g.150309C>T , LRG_292:g.150309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5004C>T	ENSP00000417241.2:p.Ala1668=
ENST00000470026.6:c.5007C>T	ENSP00000419274.2:p.Ala1669=
ENST00000473961.6:c.4881C>T	ENSP00000420201.2:p.Ala1627=
ENST00000476777.6:c.5001C>T	ENSP00000417554.2:p.Ala1667=
ENST00000477152.6:c.4929C>T	ENSP00000419988.2:p.Ala1643=
ENST00000478531.6:c.1695C>T	ENSP00000420412.2:p.Ala565=
ENST00000489037.2:c.4929C>T	ENSP00000420781.2:p.Ala1643=
ENST00000493919.6:c.1557C>T	ENSP00000418819.2:p.Ala519=
ENST00000494123.6:c.5007C>T	ENSP00000419103.2:p.Ala1669=
ENST00000497488.2:c.4119C>T	ENSP00000418986.2:p.Ala1373=
ENST00000618469.2:c.5007C>T	ENSP00000478114.2:p.Ala1669=
ENST00000634433.2:c.4884C>T	ENSP00000489431.2:p.Ala1628=
ENST00000644379.2:c.5073C>T	ENSP00000496570.2:p.Ala1691=
ENST00000644555.2:c.1557C>T	ENSP00000494614.2:p.Ala519=
ENST00000652672.2:c.4866C>T	ENSP00000498906.2:p.Ala1622=
ENST00000484087.6:c.1569C>T	ENSP00000419481.2:p.Ala523=
ENST00000357654.9:c.5007C>T MANE Select	ENSP00000350283.3:p.Ala1669=
ENST00000471181.7:c.5070C>T	ENSP00000418960.2:p.Ala1690=
ENST00000644379.1:c.1394C>T
ENST00000352993.7:c.1581C>T	ENSP00000312236.5:p.Ala527=
ENST00000357654.7:c.5007C>T	ENSP00000350283.3:p.Ala1669=
ENST00000461221.5:c.*4790C>T	ENSP00000418548.1:n.*4790C>T
ENST00000468300.5:c.1695C>T	ENSP00000417148.1:p.Ala565=
ENST00000471181.6:c.5070C>T	ENSP00000418960.2:p.Ala1690=
ENST00000472490.1:n.160C>T
ENST00000478531.5:c.1695C>T	ENSP00000420412.1:p.Ala565=
ENST00000484087.5:c.1320C>T	ENSP00000419481.1:p.Ala440=
ENST00000491747.6:c.1695C>T	ENSP00000420705.2:p.Ala565=
ENST00000493795.5:c.4866C>T	ENSP00000418775.1:p.Ala1622=
ENST00000493919.5:c.1557C>T	ENSP00000418819.1:p.Ala519=
ENST00000586385.5:c.5-3724C>T	ENSP00000465818.1:n.5-3724C>T
ENST00000591534.5:c.480C>T	ENSP00000467329.1:p.Ala160=
ENST00000591849.5:c.-98-17485C>T	ENSP00000465347.1:n.-98-17485C>T
NM_007294.3:c.5007C>T , LRG_292t1:c.5007C>T	NP_009225.1:p.Ala1669=
NM_007297.3:c.4866C>T	NP_009228.2:p.Ala1622=
NM_007298.3:c.1695C>T	NP_009229.2:p.Ala565=
NM_007299.3:c.1695C>T	NP_009230.2:p.Ala565=
NM_007300.3:c.5070C>T	NP_009231.2:p.Ala1690=
NR_027676.1:n.5143C>T
NM_007294.4:c.5007C>T MANE Select	NP_009225.1:p.Ala1669=
NM_007297.4:c.4866C>T	NP_009228.2:p.Ala1622=
NM_007299.4:c.1695C>T	NP_009230.2:p.Ala565=
NM_007300.4:c.5070C>T	NP_009231.2:p.Ala1690=
NR_027676.2:n.5184C>T