Canonical Allele Identifier: CA381700567

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146470T>A (hg19) ; chr11:g.71435424T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435424T>A , CM000673.2:g.71435424T>A	GRCh38
NC_000011.9:g.71146470T>A , CM000673.1:g.71146470T>A	GRCh37
NC_000011.8:g.70824118T>A	NCBI36
NG_012655.2:g.18008A>T , LRG_340:g.18008A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1379A>T	ENSP00000435707.3:p.Glu460Val
ENST00000526780.6:c.1379A>T	ENSP00000435668.2:p.Glu460Val
ENST00000527316.6:c.1205A>T	ENSP00000435047.2:p.Glu402Val
ENST00000682708.1:c.1430A>T	ENSP00000506866.1:p.Glu477Val
ENST00000683287.1:c.1415A>T	ENSP00000507607.1:p.Glu472Val
ENST00000683714.1:c.*142A>T	ENSP00000508207.1:n.*142A>T
ENST00000684396.1:n.1419A>T
ENST00000685320.1:c.794A>T	ENSP00000509319.1:p.Glu265Val
ENST00000690257.1:c.1283A>T	ENSP00000510750.1:p.Glu428Val
ENST00000355527.8:c.1379A>T MANE Select	ENSP00000347717.4:p.Glu460Val
ENST00000355527.7:c.1379A>T	ENSP00000347717.3:p.Glu460Val
ENST00000407721.6:c.1379A>T	ENSP00000384739.2:p.Glu460Val
ENST00000525137.1:c.880A>T	ENSP00000435956.1:n.880A>T
ENST00000533800.5:c.611+18A>T	ENSP00000435011.1:n.611+18A>T
ENST00000534795.5:c.319+2388A>T
NM_001163817.1:c.1379A>T	NP_001157289.1:p.Glu460Val
NM_001360.2:c.1379A>T , LRG_340t1:c.1379A>T	NP_001351.2:p.Glu460Val
XM_011544777.1:c.*142A>T	XP_011543079.1:n.*142A>T
XM_011544777.2:c.*142A>T	XP_011543079.1:n.*142A>T
NM_001163817.2:c.1379A>T	NP_001157289.1:p.Glu460Val
NM_001360.3:c.1379A>T MANE Select	NP_001351.2:p.Glu460Val