Canonical Allele Identifier: CA381701094

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146566A>T (hg19) ; chr11:g.71435520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435520A>T , CM000673.2:g.71435520A>T	GRCh38
NC_000011.9:g.71146566A>T , CM000673.1:g.71146566A>T	GRCh37
NC_000011.8:g.70824214A>T	NCBI36
NG_012655.2:g.17912T>A , LRG_340:g.17912T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1283T>A	ENSP00000435707.3:p.Leu428Gln
ENST00000526780.6:c.1283T>A	ENSP00000435668.2:p.Leu428Gln
ENST00000527316.6:c.1109T>A	ENSP00000435047.2:p.Leu370Gln
ENST00000682708.1:c.1334T>A	ENSP00000506866.1:p.Leu445Gln
ENST00000683287.1:c.1319T>A	ENSP00000507607.1:p.Leu440Gln
ENST00000683714.1:c.*46T>A	ENSP00000508207.1:n.*46T>A
ENST00000684396.1:n.1323T>A
ENST00000685320.1:c.698T>A	ENSP00000509319.1:p.Leu233Gln
ENST00000690257.1:c.1187T>A	ENSP00000510750.1:p.Leu396Gln
ENST00000355527.8:c.1283T>A MANE Select	ENSP00000347717.4:p.Leu428Gln
ENST00000355527.7:c.1283T>A	ENSP00000347717.3:p.Leu428Gln
ENST00000407721.6:c.1283T>A	ENSP00000384739.2:p.Leu428Gln
ENST00000525137.1:c.784T>A	ENSP00000435956.1:n.784T>A
ENST00000533800.5:c.533T>A	ENSP00000435011.1:p.Leu178Gln
ENST00000534795.5:c.319+2292T>A
NM_001163817.1:c.1283T>A	NP_001157289.1:p.Leu428Gln
NM_001360.2:c.1283T>A , LRG_340t1:c.1283T>A	NP_001351.2:p.Leu428Gln
XM_011544777.1:c.*46T>A	XP_011543079.1:n.*46T>A
XM_011544777.2:c.*46T>A	XP_011543079.1:n.*46T>A
NM_001163817.2:c.1283T>A	NP_001157289.1:p.Leu428Gln
NM_001360.3:c.1283T>A MANE Select	NP_001351.2:p.Leu428Gln