Canonical Allele Identifier: CA10590466

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868910
• ClinVar RCV Id: RCV001077906
• dbSNP Id: rs80357286
• MyVariant Identifiers: chr17:g.41199671T>A (hg19) ; chr17:g.43047654T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047654T>A , CM000679.2:g.43047654T>A	GRCh38
NC_000017.10:g.41199671T>A , CM000679.1:g.41199671T>A	GRCh37
NC_000017.9:g.38453197T>A	NCBI36
NG_005905.2:g.170330A>T , LRG_292:g.170330A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5453A>T	ENSP00000417241.2:p.Asn1818Ile
ENST00000470026.6:c.5456A>T	ENSP00000419274.2:p.Asn1819Ile
ENST00000473961.6:c.5330A>T	ENSP00000420201.2:p.Asn1777Ile
ENST00000476777.6:c.5450A>T	ENSP00000417554.2:p.Asn1817Ile
ENST00000477152.6:c.5378A>T	ENSP00000419988.2:p.Asn1793Ile
ENST00000478531.6:c.2144A>T	ENSP00000420412.2:p.Asn715Ile
ENST00000489037.2:c.5378A>T	ENSP00000420781.2:p.Asn1793Ile
ENST00000493919.6:c.2006A>T	ENSP00000418819.2:p.Asn669Ile
ENST00000494123.6:c.5456A>T	ENSP00000419103.2:p.Asn1819Ile
ENST00000497488.2:c.4568A>T	ENSP00000418986.2:p.Asn1523Ile
ENST00000618469.2:c.5456A>T	ENSP00000478114.2:p.Asn1819Ile
ENST00000634433.2:c.5333A>T	ENSP00000489431.2:p.Asn1778Ile
ENST00000644379.2:c.5522A>T	ENSP00000496570.2:p.Asn1841Ile
ENST00000644555.2:c.2006A>T	ENSP00000494614.2:p.Asn669Ile
ENST00000652672.2:c.5315A>T	ENSP00000498906.2:p.Asn1772Ile
ENST00000484087.6:c.2018A>T	ENSP00000419481.2:p.Asn673Ile
ENST00000700081.1:n.1339A>T
ENST00000700082.1:n.820A>T
ENST00000357654.9:c.5456A>T MANE Select	ENSP00000350283.3:p.Asn1819Ile
ENST00000471181.7:c.5519A>T	ENSP00000418960.2:p.Asn1840Ile
ENST00000644379.1:c.1843A>T
ENST00000352993.7:c.2030A>T	ENSP00000312236.5:p.Asn677Ile
ENST00000357654.7:c.5456A>T	ENSP00000350283.3:p.Asn1819Ile
ENST00000461221.5:c.*5239A>T	ENSP00000418548.1:n.*5239A>T
ENST00000468300.5:c.2070A>T	ENSP00000417148.1:p.Gln690His
ENST00000471181.6:c.5519A>T	ENSP00000418960.2:p.Asn1840Ile
ENST00000491747.6:c.2144A>T	ENSP00000420705.2:p.Asn715Ile
ENST00000493795.5:c.5315A>T	ENSP00000418775.1:p.Asn1772Ile
ENST00000586385.5:c.386A>T	ENSP00000465818.1:p.Asn129Ile
ENST00000591534.5:c.929A>T	ENSP00000467329.1:p.Asn310Ile
ENST00000591849.5:c.155A>T	ENSP00000465347.1:p.Asn52Ile
NM_007294.3:c.5456A>T , LRG_292t1:c.5456A>T	NP_009225.1:p.Asn1819Ile
NM_007297.3:c.5315A>T	NP_009228.2:p.Asn1772Ile
NM_007298.3:c.2144A>T	NP_009229.2:p.Asn715Ile
NM_007299.3:c.2070A>T	NP_009230.2:p.Gln690His
NM_007300.3:c.5519A>T	NP_009231.2:p.Asn1840Ile
NR_027676.1:n.5592A>T
NM_007294.4:c.5456A>T MANE Select	NP_009225.1:p.Asn1819Ile
NM_007297.4:c.5315A>T	NP_009228.2:p.Asn1772Ile
NM_007299.4:c.2070A>T	NP_009230.2:p.Gln690His
NM_007300.4:c.5519A>T	NP_009231.2:p.Asn1840Ile
NR_027676.2:n.5633A>T