Canonical Allele Identifier: CA10591276

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864998
• ClinVar RCV Id: RCV001072316
• dbSNP Id: rs1597820025
• MyVariant Identifiers: chr17:g.41215910T>A (hg19) ; chr17:g.43063893T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063893T>A , CM000679.2:g.43063893T>A	GRCh38
NC_000017.10:g.41215910T>A , CM000679.1:g.41215910T>A	GRCh37
NC_000017.9:g.38469436T>A	NCBI36
NG_005905.2:g.154091A>T , LRG_292:g.154091A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5130A>T	ENSP00000417241.2:p.Lys1710Asn
ENST00000470026.6:c.5133A>T	ENSP00000419274.2:p.Lys1711Asn
ENST00000473961.6:c.5007A>T	ENSP00000420201.2:p.Lys1669Asn
ENST00000476777.6:c.5127A>T	ENSP00000417554.2:p.Lys1709Asn
ENST00000477152.6:c.5055A>T	ENSP00000419988.2:p.Lys1685Asn
ENST00000478531.6:c.1821A>T	ENSP00000420412.2:p.Lys607Asn
ENST00000489037.2:c.5055A>T	ENSP00000420781.2:p.Lys1685Asn
ENST00000493919.6:c.1683A>T	ENSP00000418819.2:p.Lys561Asn
ENST00000494123.6:c.5133A>T	ENSP00000419103.2:p.Lys1711Asn
ENST00000497488.2:c.4245A>T	ENSP00000418986.2:p.Lys1415Asn
ENST00000618469.2:c.5133A>T	ENSP00000478114.2:p.Lys1711Asn
ENST00000634433.2:c.5010A>T	ENSP00000489431.2:p.Lys1670Asn
ENST00000644379.2:c.5199A>T	ENSP00000496570.2:p.Lys1733Asn
ENST00000644555.2:c.1683A>T	ENSP00000494614.2:p.Lys561Asn
ENST00000652672.2:c.4992A>T	ENSP00000498906.2:p.Lys1664Asn
ENST00000484087.6:c.1695A>T	ENSP00000419481.2:p.Lys565Asn
ENST00000357654.9:c.5133A>T MANE Select	ENSP00000350283.3:p.Lys1711Asn
ENST00000471181.7:c.5196A>T	ENSP00000418960.2:p.Lys1732Asn
ENST00000644379.1:c.1520A>T
ENST00000352993.7:c.1707A>T	ENSP00000312236.5:p.Lys569Asn
ENST00000357654.7:c.5133A>T	ENSP00000350283.3:p.Lys1711Asn
ENST00000461221.5:c.*4916A>T	ENSP00000418548.1:n.*4916A>T
ENST00000468300.5:c.1821A>T	ENSP00000417148.1:p.Lys607Asn
ENST00000471181.6:c.5196A>T	ENSP00000418960.2:p.Lys1732Asn
ENST00000478531.5:c.1821A>T	ENSP00000420412.1:p.Lys607Asn
ENST00000484087.5:c.1446A>T	ENSP00000419481.1:p.Lys482Asn
ENST00000491747.6:c.1821A>T	ENSP00000420705.2:p.Lys607Asn
ENST00000493795.5:c.4992A>T	ENSP00000418775.1:p.Lys1664Asn
ENST00000493919.5:c.1683A>T	ENSP00000418819.1:p.Lys561Asn
ENST00000586385.5:c.63A>T	ENSP00000465818.1:p.Lys21Asn
ENST00000591534.5:c.606A>T	ENSP00000467329.1:p.Lys202Asn
ENST00000591849.5:c.-98-13703A>T	ENSP00000465347.1:n.-98-13703A>T
NM_007294.3:c.5133A>T , LRG_292t1:c.5133A>T	NP_009225.1:p.Lys1711Asn
NM_007297.3:c.4992A>T	NP_009228.2:p.Lys1664Asn
NM_007298.3:c.1821A>T	NP_009229.2:p.Lys607Asn
NM_007299.3:c.1821A>T	NP_009230.2:p.Lys607Asn
NM_007300.3:c.5196A>T	NP_009231.2:p.Lys1732Asn
NR_027676.1:n.5269A>T
NM_007294.4:c.5133A>T MANE Select	NP_009225.1:p.Lys1711Asn
NM_007297.4:c.4992A>T	NP_009228.2:p.Lys1664Asn
NM_007299.4:c.1821A>T	NP_009230.2:p.Lys607Asn
NM_007300.4:c.5196A>T	NP_009231.2:p.Lys1732Asn
NR_027676.2:n.5310A>T