Canonical Allele Identifier: CA381701088

Gene: DHCR7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1283T>G	ENSP00000435707.3:p.Leu428Arg
ENST00000526780.6:c.1283T>G	ENSP00000435668.2:p.Leu428Arg
ENST00000527316.6:c.1109T>G	ENSP00000435047.2:p.Leu370Arg
ENST00000682708.1:c.1334T>G	ENSP00000506866.1:p.Leu445Arg
ENST00000683287.1:c.1319T>G	ENSP00000507607.1:p.Leu440Arg
ENST00000683714.1:c.*46T>G	ENSP00000508207.1:n.*46T>G
ENST00000684396.1:n.1323T>G
ENST00000685320.1:c.698T>G	ENSP00000509319.1:p.Leu233Arg
ENST00000690257.1:c.1187T>G	ENSP00000510750.1:p.Leu396Arg
ENST00000355527.8:c.1283T>G MANE Select	ENSP00000347717.4:p.Leu428Arg
ENST00000355527.7:c.1283T>G	ENSP00000347717.3:p.Leu428Arg
ENST00000407721.6:c.1283T>G	ENSP00000384739.2:p.Leu428Arg
ENST00000525137.1:c.784T>G	ENSP00000435956.1:n.784T>G
ENST00000533800.5:c.533T>G	ENSP00000435011.1:p.Leu178Arg
ENST00000534795.5:c.319+2292T>G
NM_001163817.1:c.1283T>G	NP_001157289.1:p.Leu428Arg
NM_001360.2:c.1283T>G , LRG_340t1:c.1283T>G	NP_001351.2:p.Leu428Arg
XM_011544777.1:c.*46T>G	XP_011543079.1:n.*46T>G
XM_011544777.2:c.*46T>G	XP_011543079.1:n.*46T>G
NM_001163817.2:c.1283T>G	NP_001157289.1:p.Leu428Arg
NM_001360.3:c.1283T>G MANE Select	NP_001351.2:p.Leu428Arg