Canonical Allele Identifier: CA10591268

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 418578
• ClinVar RCV Id: RCV000484213 ; RCV001077648 ; RCV001228454 ; RCV003153657 ; RCV002350051
• dbSNP Id: rs1064793309
• MyVariant Identifiers: chr17:g.41215906C>T (hg19) ; chr17:g.43063889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063889C>T , CM000679.2:g.43063889C>T	GRCh38
NC_000017.10:g.41215906C>T , CM000679.1:g.41215906C>T	GRCh37
NC_000017.9:g.38469432C>T	NCBI36
NG_005905.2:g.154095G>A , LRG_292:g.154095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5134G>A	ENSP00000417241.2:p.Val1712Ile
ENST00000470026.6:c.5137G>A	ENSP00000419274.2:p.Val1713Ile
ENST00000473961.6:c.5011G>A	ENSP00000420201.2:p.Val1671Ile
ENST00000476777.6:c.5131G>A	ENSP00000417554.2:p.Val1711Ile
ENST00000477152.6:c.5059G>A	ENSP00000419988.2:p.Val1687Ile
ENST00000478531.6:c.1825G>A	ENSP00000420412.2:p.Val609Ile
ENST00000489037.2:c.5059G>A	ENSP00000420781.2:p.Val1687Ile
ENST00000493919.6:c.1687G>A	ENSP00000418819.2:p.Val563Ile
ENST00000494123.6:c.5137G>A	ENSP00000419103.2:p.Val1713Ile
ENST00000497488.2:c.4249G>A	ENSP00000418986.2:p.Val1417Ile
ENST00000618469.2:c.5137G>A	ENSP00000478114.2:p.Val1713Ile
ENST00000634433.2:c.5014G>A	ENSP00000489431.2:p.Val1672Ile
ENST00000644379.2:c.5203G>A	ENSP00000496570.2:p.Val1735Ile
ENST00000644555.2:c.1687G>A	ENSP00000494614.2:p.Val563Ile
ENST00000652672.2:c.4996G>A	ENSP00000498906.2:p.Val1666Ile
ENST00000484087.6:c.1699G>A	ENSP00000419481.2:p.Val567Ile
ENST00000357654.9:c.5137G>A MANE Select	ENSP00000350283.3:p.Val1713Ile
ENST00000471181.7:c.5200G>A	ENSP00000418960.2:p.Val1734Ile
ENST00000644379.1:c.1524G>A
ENST00000352993.7:c.1711G>A	ENSP00000312236.5:p.Val571Ile
ENST00000357654.7:c.5137G>A	ENSP00000350283.3:p.Val1713Ile
ENST00000461221.5:c.*4920G>A	ENSP00000418548.1:n.*4920G>A
ENST00000468300.5:c.1825G>A	ENSP00000417148.1:p.Val609Ile
ENST00000471181.6:c.5200G>A	ENSP00000418960.2:p.Val1734Ile
ENST00000478531.5:c.1825G>A	ENSP00000420412.1:p.Val609Ile
ENST00000484087.5:c.1450G>A	ENSP00000419481.1:p.Val484Ile
ENST00000491747.6:c.1825G>A	ENSP00000420705.2:p.Val609Ile
ENST00000493795.5:c.4996G>A	ENSP00000418775.1:p.Val1666Ile
ENST00000493919.5:c.1687G>A	ENSP00000418819.1:p.Val563Ile
ENST00000586385.5:c.67G>A	ENSP00000465818.1:p.Val23Ile
ENST00000591534.5:c.610G>A	ENSP00000467329.1:p.Val204Ile
ENST00000591849.5:c.-98-13699G>A	ENSP00000465347.1:n.-98-13699G>A
NM_007294.3:c.5137G>A , LRG_292t1:c.5137G>A	NP_009225.1:p.Val1713Ile
NM_007297.3:c.4996G>A	NP_009228.2:p.Val1666Ile
NM_007298.3:c.1825G>A	NP_009229.2:p.Val609Ile
NM_007299.3:c.1825G>A	NP_009230.2:p.Val609Ile
NM_007300.3:c.5200G>A	NP_009231.2:p.Val1734Ile
NR_027676.1:n.5273G>A
NM_007294.4:c.5137G>A MANE Select	NP_009225.1:p.Val1713Ile
NM_007297.4:c.4996G>A	NP_009228.2:p.Val1666Ile
NM_007299.4:c.1825G>A	NP_009230.2:p.Val609Ile
NM_007300.4:c.5200G>A	NP_009231.2:p.Val1734Ile
NR_027676.2:n.5314G>A