Canonical Allele Identifier: CA10580490

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 232831
• ClinVar RCV Id: RCV000213411 ; RCV001077077
• dbSNP Id: rs397509244
• MyVariant Identifiers: chr17:g.41209101G>T (hg19) ; chr17:g.43057084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057084G>T , CM000679.2:g.43057084G>T	GRCh38
NC_000017.10:g.41209101G>T , CM000679.1:g.41209101G>T	GRCh37
NC_000017.9:g.38462627G>T	NCBI36
NG_005905.2:g.160900C>A , LRG_292:g.160900C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5242C>A	ENSP00000417241.2:p.Pro1748Thr
ENST00000470026.6:c.5245C>A	ENSP00000419274.2:p.Pro1749Thr
ENST00000473961.6:c.5119C>A	ENSP00000420201.2:p.Pro1707Thr
ENST00000476777.6:c.5239C>A	ENSP00000417554.2:p.Pro1747Thr
ENST00000477152.6:c.5167C>A	ENSP00000419988.2:p.Pro1723Thr
ENST00000478531.6:c.1933C>A	ENSP00000420412.2:p.Pro645Thr
ENST00000489037.2:c.5167C>A	ENSP00000420781.2:p.Pro1723Thr
ENST00000493919.6:c.1795C>A	ENSP00000418819.2:p.Pro599Thr
ENST00000494123.6:c.5245C>A	ENSP00000419103.2:p.Pro1749Thr
ENST00000497488.2:c.4357C>A	ENSP00000418986.2:p.Pro1453Thr
ENST00000618469.2:c.5245C>A	ENSP00000478114.2:p.Pro1749Thr
ENST00000634433.2:c.5122C>A	ENSP00000489431.2:p.Pro1708Thr
ENST00000644379.2:c.5311C>A	ENSP00000496570.2:p.Pro1771Thr
ENST00000644555.2:c.1795C>A	ENSP00000494614.2:p.Pro599Thr
ENST00000652672.2:c.5104C>A	ENSP00000498906.2:p.Pro1702Thr
ENST00000484087.6:c.1807C>A	ENSP00000419481.2:p.Pro603Thr
ENST00000357654.9:c.5245C>A MANE Select	ENSP00000350283.3:p.Pro1749Thr
ENST00000471181.7:c.5308C>A	ENSP00000418960.2:p.Pro1770Thr
ENST00000644379.1:c.1632C>A
ENST00000352993.7:c.1819C>A	ENSP00000312236.5:p.Pro607Thr
ENST00000357654.7:c.5245C>A	ENSP00000350283.3:p.Pro1749Thr
ENST00000461221.5:c.*5028C>A	ENSP00000418548.1:n.*5028C>A
ENST00000468300.5:c.1933C>A	ENSP00000417148.1:p.Pro645Thr
ENST00000471181.6:c.5308C>A	ENSP00000418960.2:p.Pro1770Thr
ENST00000491747.6:c.1933C>A	ENSP00000420705.2:p.Pro645Thr
ENST00000493795.5:c.5104C>A	ENSP00000418775.1:p.Pro1702Thr
ENST00000586385.5:c.175C>A	ENSP00000465818.1:p.Pro59Thr
ENST00000591534.5:c.718C>A	ENSP00000467329.1:p.Pro240Thr
ENST00000591849.5:c.-98-6894C>A	ENSP00000465347.1:n.-98-6894C>A
NM_007294.3:c.5245C>A , LRG_292t1:c.5245C>A	NP_009225.1:p.Pro1749Thr
NM_007297.3:c.5104C>A	NP_009228.2:p.Pro1702Thr
NM_007298.3:c.1933C>A	NP_009229.2:p.Pro645Thr
NM_007299.3:c.1933C>A	NP_009230.2:p.Pro645Thr
NM_007300.3:c.5308C>A	NP_009231.2:p.Pro1770Thr
NR_027676.1:n.5381C>A
NM_007294.4:c.5245C>A MANE Select	NP_009225.1:p.Pro1749Thr
NM_007297.4:c.5104C>A	NP_009228.2:p.Pro1702Thr
NM_007299.4:c.1933C>A	NP_009230.2:p.Pro645Thr
NM_007300.4:c.5308C>A	NP_009231.2:p.Pro1770Thr
NR_027676.2:n.5422C>A