Canonical Allele Identifier: CA10590560

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865501
• ClinVar RCV Id: RCV001072932
• dbSNP Id: rs1800751
• MyVariant Identifiers: chr17:g.41199693G>A (hg19) ; chr17:g.43047676G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047676G>A , CM000679.2:g.43047676G>A	GRCh38
NC_000017.10:g.41199693G>A , CM000679.1:g.41199693G>A	GRCh37
NC_000017.9:g.38453219G>A	NCBI36
NG_005905.2:g.170308C>T , LRG_292:g.170308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5431C>T	ENSP00000417241.2:p.Pro1811Ser
ENST00000470026.6:c.5434C>T	ENSP00000419274.2:p.Pro1812Ser
ENST00000473961.6:c.5308C>T	ENSP00000420201.2:p.Pro1770Ser
ENST00000476777.6:c.5428C>T	ENSP00000417554.2:p.Pro1810Ser
ENST00000477152.6:c.5356C>T	ENSP00000419988.2:p.Pro1786Ser
ENST00000478531.6:c.2122C>T	ENSP00000420412.2:p.Pro708Ser
ENST00000489037.2:c.5356C>T	ENSP00000420781.2:p.Pro1786Ser
ENST00000493919.6:c.1984C>T	ENSP00000418819.2:p.Pro662Ser
ENST00000494123.6:c.5434C>T	ENSP00000419103.2:p.Pro1812Ser
ENST00000497488.2:c.4546C>T	ENSP00000418986.2:p.Pro1516Ser
ENST00000618469.2:c.5434C>T	ENSP00000478114.2:p.Pro1812Ser
ENST00000634433.2:c.5311C>T	ENSP00000489431.2:p.Pro1771Ser
ENST00000644379.2:c.5500C>T	ENSP00000496570.2:p.Pro1834Ser
ENST00000644555.2:c.1984C>T	ENSP00000494614.2:p.Pro662Ser
ENST00000652672.2:c.5293C>T	ENSP00000498906.2:p.Pro1765Ser
ENST00000484087.6:c.1996C>T	ENSP00000419481.2:p.Pro666Ser
ENST00000700081.1:n.1317C>T
ENST00000700082.1:n.798C>T
ENST00000357654.9:c.5434C>T MANE Select	ENSP00000350283.3:p.Pro1812Ser
ENST00000471181.7:c.5497C>T	ENSP00000418960.2:p.Pro1833Ser
ENST00000644379.1:c.1821C>T
ENST00000352993.7:c.2008C>T	ENSP00000312236.5:p.Pro670Ser
ENST00000357654.7:c.5434C>T	ENSP00000350283.3:p.Pro1812Ser
ENST00000461221.5:c.*5217C>T	ENSP00000418548.1:n.*5217C>T
ENST00000468300.5:c.2048C>T	ENSP00000417148.1:p.Ala683Val
ENST00000471181.6:c.5497C>T	ENSP00000418960.2:p.Pro1833Ser
ENST00000491747.6:c.2122C>T	ENSP00000420705.2:p.Pro708Ser
ENST00000493795.5:c.5293C>T	ENSP00000418775.1:p.Pro1765Ser
ENST00000586385.5:c.364C>T	ENSP00000465818.1:p.Pro122Ser
ENST00000591534.5:c.907C>T	ENSP00000467329.1:p.Pro303Ser
ENST00000591849.5:c.133C>T	ENSP00000465347.1:p.Pro45Ser
NM_007294.3:c.5434C>T , LRG_292t1:c.5434C>T	NP_009225.1:p.Pro1812Ser
NM_007297.3:c.5293C>T	NP_009228.2:p.Pro1765Ser
NM_007298.3:c.2122C>T	NP_009229.2:p.Pro708Ser
NM_007299.3:c.2048C>T	NP_009230.2:p.Ala683Val
NM_007300.3:c.5497C>T	NP_009231.2:p.Pro1833Ser
NR_027676.1:n.5570C>T
NM_007294.4:c.5434C>T MANE Select	NP_009225.1:p.Pro1812Ser
NM_007297.4:c.5293C>T	NP_009228.2:p.Pro1765Ser
NM_007299.4:c.2048C>T	NP_009230.2:p.Ala683Val
NM_007300.4:c.5497C>T	NP_009231.2:p.Pro1833Ser
NR_027676.2:n.5611C>T