Canonical Allele Identifier: CA10590468

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868909
• ClinVar RCV Id: RCV001077905
• dbSNP Id: rs80357286
• MyVariant Identifiers: chr17:g.41199671T>G (hg19) ; chr17:g.43047654T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5453A>C	ENSP00000417241.2:p.Asn1818Thr
ENST00000470026.6:c.5456A>C	ENSP00000419274.2:p.Asn1819Thr
ENST00000473961.6:c.5330A>C	ENSP00000420201.2:p.Asn1777Thr
ENST00000476777.6:c.5450A>C	ENSP00000417554.2:p.Asn1817Thr
ENST00000477152.6:c.5378A>C	ENSP00000419988.2:p.Asn1793Thr
ENST00000478531.6:c.2144A>C	ENSP00000420412.2:p.Asn715Thr
ENST00000489037.2:c.5378A>C	ENSP00000420781.2:p.Asn1793Thr
ENST00000493919.6:c.2006A>C	ENSP00000418819.2:p.Asn669Thr
ENST00000494123.6:c.5456A>C	ENSP00000419103.2:p.Asn1819Thr
ENST00000497488.2:c.4568A>C	ENSP00000418986.2:p.Asn1523Thr
ENST00000618469.2:c.5456A>C	ENSP00000478114.2:p.Asn1819Thr
ENST00000634433.2:c.5333A>C	ENSP00000489431.2:p.Asn1778Thr
ENST00000644379.2:c.5522A>C	ENSP00000496570.2:p.Asn1841Thr
ENST00000644555.2:c.2006A>C	ENSP00000494614.2:p.Asn669Thr
ENST00000652672.2:c.5315A>C	ENSP00000498906.2:p.Asn1772Thr
ENST00000484087.6:c.2018A>C	ENSP00000419481.2:p.Asn673Thr
ENST00000700081.1:n.1339A>C
ENST00000700082.1:n.820A>C
ENST00000357654.9:c.5456A>C MANE Select	ENSP00000350283.3:p.Asn1819Thr
ENST00000471181.7:c.5519A>C	ENSP00000418960.2:p.Asn1840Thr
ENST00000644379.1:c.1843A>C
ENST00000352993.7:c.2030A>C	ENSP00000312236.5:p.Asn677Thr
ENST00000357654.7:c.5456A>C	ENSP00000350283.3:p.Asn1819Thr
ENST00000461221.5:c.*5239A>C	ENSP00000418548.1:n.*5239A>C
ENST00000468300.5:c.2070A>C	ENSP00000417148.1:p.Gln690His
ENST00000471181.6:c.5519A>C	ENSP00000418960.2:p.Asn1840Thr
ENST00000491747.6:c.2144A>C	ENSP00000420705.2:p.Asn715Thr
ENST00000493795.5:c.5315A>C	ENSP00000418775.1:p.Asn1772Thr
ENST00000586385.5:c.386A>C	ENSP00000465818.1:p.Asn129Thr
ENST00000591534.5:c.929A>C	ENSP00000467329.1:p.Asn310Thr
ENST00000591849.5:c.155A>C	ENSP00000465347.1:p.Asn52Thr
NM_007294.3:c.5456A>C , LRG_292t1:c.5456A>C	NP_009225.1:p.Asn1819Thr
NM_007297.3:c.5315A>C	NP_009228.2:p.Asn1772Thr
NM_007298.3:c.2144A>C	NP_009229.2:p.Asn715Thr
NM_007299.3:c.2070A>C	NP_009230.2:p.Gln690His
NM_007300.3:c.5519A>C	NP_009231.2:p.Asn1840Thr
NR_027676.1:n.5592A>C
NM_007294.4:c.5456A>C MANE Select	NP_009225.1:p.Asn1819Thr
NM_007297.4:c.5315A>C	NP_009228.2:p.Asn1772Thr
NM_007299.4:c.2070A>C	NP_009230.2:p.Gln690His
NM_007300.4:c.5519A>C	NP_009231.2:p.Asn1840Thr
NR_027676.2:n.5633A>C