Canonical Allele Identifier: CA6162337

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435799G>A , CM000673.2:g.71435799G>A	GRCh38
NC_000011.9:g.71146845G>A , CM000673.1:g.71146845G>A	GRCh37
NC_000011.8:g.70824493G>A	NCBI36
NG_012655.2:g.17633C>T , LRG_340:g.17633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1004C>T	ENSP00000435707.3:p.Pro335Leu
ENST00000526780.6:c.1004C>T	ENSP00000435668.2:p.Pro335Leu
ENST00000527316.6:c.830C>T	ENSP00000435047.2:p.Pro277Leu
ENST00000682708.1:c.1055C>T	ENSP00000506866.1:p.Pro352Leu
ENST00000683287.1:c.1040C>T	ENSP00000507607.1:p.Pro347Leu
ENST00000683714.1:c.1012C>T	ENSP00000508207.1:p.Arg338Cys
ENST00000684396.1:n.1044C>T
ENST00000685320.1:c.419C>T	ENSP00000509319.1:p.Pro140Leu
ENST00000690257.1:c.908C>T	ENSP00000510750.1:p.Pro303Leu
ENST00000355527.8:c.1004C>T MANE Select	ENSP00000347717.4:p.Pro335Leu
ENST00000355527.7:c.1004C>T	ENSP00000347717.3:p.Pro335Leu
ENST00000407721.6:c.1004C>T	ENSP00000384739.2:p.Pro335Leu
ENST00000525137.1:c.505C>T	ENSP00000435956.1:p.Arg169Cys
ENST00000533800.5:c.254C>T	ENSP00000435011.1:p.Pro85Leu
ENST00000534795.5:c.319+2013C>T
NM_001163817.1:c.1004C>T	NP_001157289.1:p.Pro335Leu
NM_001360.2:c.1004C>T , LRG_340t1:c.1004C>T	NP_001351.2:p.Pro335Leu
XM_011544777.1:c.1138C>T	XP_011543079.1:p.Arg380Cys
XM_011544777.2:c.1138C>T	XP_011543079.1:p.Arg380Cys
NM_001163817.2:c.1004C>T	NP_001157289.1:p.Pro335Leu
NM_001360.3:c.1004C>T MANE Select	NP_001351.2:p.Pro335Leu