Canonical Allele Identifier: CA381703193

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71149929A>C (hg19) ; chr11:g.71438883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438883A>C , CM000673.2:g.71438883A>C	GRCh38
NC_000011.9:g.71149929A>C , CM000673.1:g.71149929A>C	GRCh37
NC_000011.8:g.70827577A>C	NCBI36
NG_012655.2:g.14549T>G , LRG_340:g.14549T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.827T>G	ENSP00000435707.3:p.Leu276Arg
ENST00000526780.6:c.827T>G	ENSP00000435668.2:p.Leu276Arg
ENST00000527316.6:c.653T>G	ENSP00000435047.2:p.Leu218Arg
ENST00000682708.1:c.878T>G	ENSP00000506866.1:p.Leu293Arg
ENST00000682880.1:c.827T>G	ENSP00000507520.1:p.Leu276Arg
ENST00000683287.1:c.863T>G	ENSP00000507607.1:p.Leu288Arg
ENST00000683714.1:c.827T>G	ENSP00000508207.1:p.Leu276Arg
ENST00000684396.1:n.867T>G
ENST00000685320.1:c.242T>G	ENSP00000509319.1:p.Leu81Arg
ENST00000690257.1:c.731T>G	ENSP00000510750.1:p.Leu244Arg
ENST00000355527.8:c.827T>G MANE Select	ENSP00000347717.4:p.Leu276Arg
ENST00000355527.7:c.827T>G	ENSP00000347717.3:p.Leu276Arg
ENST00000407721.6:c.827T>G	ENSP00000384739.2:p.Leu276Arg
ENST00000525137.1:c.194T>G	ENSP00000435956.1:p.Leu65Arg
ENST00000527316.5:c.731T>G	ENSP00000435047.1:p.Leu244Arg
ENST00000533800.5:c.77T>G	ENSP00000435011.1:p.Leu26Arg
ENST00000534701.1:n.322T>G
ENST00000534795.5:c.183T>G
NM_001163817.1:c.827T>G	NP_001157289.1:p.Leu276Arg
NM_001360.2:c.827T>G , LRG_340t1:c.827T>G	NP_001351.2:p.Leu276Arg
XM_011544777.1:c.827T>G	XP_011543079.1:p.Leu276Arg
XM_011544777.2:c.827T>G	XP_011543079.1:p.Leu276Arg
NM_001163817.2:c.827T>G	NP_001157289.1:p.Leu276Arg
NM_001360.3:c.827T>G MANE Select	NP_001351.2:p.Leu276Arg