Canonical Allele Identifier: CA10591473

Gene: BRCA1

Linked Data

• dbSNP Id: rs2052178079
• MyVariant Identifiers: chr17:g.41219678A>T (hg19) ; chr17:g.43067661A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067661A>T , CM000679.2:g.43067661A>T	GRCh38
NC_000017.10:g.41219678A>T , CM000679.1:g.41219678A>T	GRCh37
NC_000017.9:g.38473204A>T	NCBI36
NG_005905.2:g.150323T>A , LRG_292:g.150323T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5018T>A	ENSP00000417241.2:p.Ile1673Asn
ENST00000470026.6:c.5021T>A	ENSP00000419274.2:p.Ile1674Asn
ENST00000473961.6:c.4895T>A	ENSP00000420201.2:p.Ile1632Asn
ENST00000476777.6:c.5015T>A	ENSP00000417554.2:p.Ile1672Asn
ENST00000477152.6:c.4943T>A	ENSP00000419988.2:p.Ile1648Asn
ENST00000478531.6:c.1709T>A	ENSP00000420412.2:p.Ile570Asn
ENST00000489037.2:c.4943T>A	ENSP00000420781.2:p.Ile1648Asn
ENST00000493919.6:c.1571T>A	ENSP00000418819.2:p.Ile524Asn
ENST00000494123.6:c.5021T>A	ENSP00000419103.2:p.Ile1674Asn
ENST00000497488.2:c.4133T>A	ENSP00000418986.2:p.Ile1378Asn
ENST00000618469.2:c.5021T>A	ENSP00000478114.2:p.Ile1674Asn
ENST00000634433.2:c.4898T>A	ENSP00000489431.2:p.Ile1633Asn
ENST00000644379.2:c.5087T>A	ENSP00000496570.2:p.Ile1696Asn
ENST00000644555.2:c.1571T>A	ENSP00000494614.2:p.Ile524Asn
ENST00000652672.2:c.4880T>A	ENSP00000498906.2:p.Ile1627Asn
ENST00000484087.6:c.1583T>A	ENSP00000419481.2:p.Ile528Asn
ENST00000357654.9:c.5021T>A MANE Select	ENSP00000350283.3:p.Ile1674Asn
ENST00000471181.7:c.5084T>A	ENSP00000418960.2:p.Ile1695Asn
ENST00000644379.1:c.1408T>A
ENST00000352993.7:c.1595T>A	ENSP00000312236.5:p.Ile532Asn
ENST00000357654.7:c.5021T>A	ENSP00000350283.3:p.Ile1674Asn
ENST00000461221.5:c.*4804T>A	ENSP00000418548.1:n.*4804T>A
ENST00000468300.5:c.1709T>A	ENSP00000417148.1:p.Ile570Asn
ENST00000471181.6:c.5084T>A	ENSP00000418960.2:p.Ile1695Asn
ENST00000472490.1:n.174T>A
ENST00000478531.5:c.1709T>A	ENSP00000420412.1:p.Ile570Asn
ENST00000484087.5:c.1334T>A	ENSP00000419481.1:p.Ile445Asn
ENST00000491747.6:c.1709T>A	ENSP00000420705.2:p.Ile570Asn
ENST00000493795.5:c.4880T>A	ENSP00000418775.1:p.Ile1627Asn
ENST00000493919.5:c.1571T>A	ENSP00000418819.1:p.Ile524Asn
ENST00000586385.5:c.5-3710T>A	ENSP00000465818.1:n.5-3710T>A
ENST00000591534.5:c.494T>A	ENSP00000467329.1:p.Ile165Asn
ENST00000591849.5:c.-98-17471T>A	ENSP00000465347.1:n.-98-17471T>A
NM_007294.3:c.5021T>A , LRG_292t1:c.5021T>A	NP_009225.1:p.Ile1674Asn
NM_007297.3:c.4880T>A	NP_009228.2:p.Ile1627Asn
NM_007298.3:c.1709T>A	NP_009229.2:p.Ile570Asn
NM_007299.3:c.1709T>A	NP_009230.2:p.Ile570Asn
NM_007300.3:c.5084T>A	NP_009231.2:p.Ile1695Asn
NR_027676.1:n.5157T>A
NM_007294.4:c.5021T>A MANE Select	NP_009225.1:p.Ile1674Asn
NM_007297.4:c.4880T>A	NP_009228.2:p.Ile1627Asn
NM_007299.4:c.1709T>A	NP_009230.2:p.Ile570Asn
NM_007300.4:c.5084T>A	NP_009231.2:p.Ile1695Asn
NR_027676.2:n.5198T>A