Canonical Allele Identifier: CA500231619

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865435
• ClinVar RCV Id: RCV001072855
• dbSNP Id: rs2052371169
• MyVariant Identifiers: chr17:g.41222993G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070976G>T , CM000679.2:g.43070976G>T	GRCh38
NC_000017.10:g.41222993G>T , CM000679.1:g.41222993G>T	GRCh37
NC_000017.9:g.38476519G>T	NCBI36
NG_005905.2:g.147008C>A , LRG_292:g.147008C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4935C>A	ENSP00000417241.2:p.Val1645=
ENST00000470026.6:c.4938C>A	ENSP00000419274.2:p.Val1646=
ENST00000473961.6:c.4812C>A	ENSP00000420201.2:p.Val1604=
ENST00000476777.6:c.4932C>A	ENSP00000417554.2:p.Val1644=
ENST00000477152.6:c.4860C>A	ENSP00000419988.2:p.Val1620=
ENST00000478531.6:c.1626C>A	ENSP00000420412.2:p.Val542=
ENST00000489037.2:c.4860C>A	ENSP00000420781.2:p.Val1620=
ENST00000493919.6:c.1488C>A	ENSP00000418819.2:p.Val496=
ENST00000494123.6:c.4938C>A	ENSP00000419103.2:p.Val1646=
ENST00000497488.2:c.4050C>A	ENSP00000418986.2:p.Val1350=
ENST00000618469.2:c.4938C>A	ENSP00000478114.2:p.Val1646=
ENST00000634433.2:c.4815C>A	ENSP00000489431.2:p.Val1605=
ENST00000644379.2:c.5004C>A	ENSP00000496570.2:p.Val1668=
ENST00000644555.2:c.1488C>A	ENSP00000494614.2:p.Val496=
ENST00000652672.2:c.4797C>A	ENSP00000498906.2:p.Val1599=
ENST00000484087.6:c.1500C>A	ENSP00000419481.2:p.Val500=
ENST00000700182.1:c.1545C>A	ENSP00000514849.1:p.Val515=
ENST00000357654.9:c.4938C>A MANE Select	ENSP00000350283.3:p.Val1646=
ENST00000471181.7:c.5001C>A	ENSP00000418960.2:p.Val1667=
ENST00000644379.1:c.1325C>A
ENST00000352993.7:c.1512C>A	ENSP00000312236.5:p.Val504=
ENST00000357654.7:c.4938C>A	ENSP00000350283.3:p.Val1646=
ENST00000461221.5:c.*4721C>A	ENSP00000418548.1:n.*4721C>A
ENST00000468300.5:c.1626C>A	ENSP00000417148.1:p.Val542=
ENST00000471181.6:c.5001C>A	ENSP00000418960.2:p.Val1667=
ENST00000472490.1:n.91C>A
ENST00000478531.5:c.1626C>A	ENSP00000420412.1:p.Val542=
ENST00000484087.5:c.1251C>A	ENSP00000419481.1:p.Val417=
ENST00000491747.6:c.1626C>A	ENSP00000420705.2:p.Val542=
ENST00000493795.5:c.4797C>A	ENSP00000418775.1:p.Val1599=
ENST00000493919.5:c.1488C>A	ENSP00000418819.1:p.Val496=
ENST00000586385.5:c.5-7025C>A	ENSP00000465818.1:n.5-7025C>A
ENST00000591534.5:c.411C>A	ENSP00000467329.1:p.Val137=
ENST00000591849.5:c.-98-20786C>A	ENSP00000465347.1:n.-98-20786C>A
NM_007294.3:c.4938C>A , LRG_292t1:c.4938C>A	NP_009225.1:p.Val1646=
NM_007297.3:c.4797C>A	NP_009228.2:p.Val1599=
NM_007298.3:c.1626C>A	NP_009229.2:p.Val542=
NM_007299.3:c.1626C>A	NP_009230.2:p.Val542=
NM_007300.3:c.5001C>A	NP_009231.2:p.Val1667=
NR_027676.1:n.5074C>A
NM_007294.4:c.4938C>A MANE Select	NP_009225.1:p.Val1646=
NM_007297.4:c.4797C>A	NP_009228.2:p.Val1599=
NM_007299.4:c.1626C>A	NP_009230.2:p.Val542=
NM_007300.4:c.5001C>A	NP_009231.2:p.Val1667=
NR_027676.2:n.5115C>A