Canonical Allele Identifier: CA381702390

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435781A>G , CM000673.2:g.71435781A>G	GRCh38
NC_000011.9:g.71146827A>G , CM000673.1:g.71146827A>G	GRCh37
NC_000011.8:g.70824475A>G	NCBI36
NG_012655.2:g.17651T>C , LRG_340:g.17651T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.1022T>C MANE Select	NP_001351.2:p.Leu341Pro
ENST00000355527.8:c.1022T>C MANE Select	ENSP00000347717.4:p.Leu341Pro
NM_001163817.1:c.1022T>C	NP_001157289.1:p.Leu341Pro
NM_001163817.2:c.1022T>C	NP_001157289.1:p.Leu341Pro
NM_001360.2:c.1022T>C , LRG_340t1:c.1022T>C	NP_001351.2:p.Leu341Pro
ENST00000355527.7:c.1022T>C	ENSP00000347717.3:p.Leu341Pro
ENST00000407721.6:c.1022T>C	ENSP00000384739.2:p.Leu341Pro
ENST00000525137.1:c.523T>C	ENSP00000435956.1:p.Cys175Arg
ENST00000525346.6:c.1022T>C	ENSP00000435707.3:p.Leu341Pro
ENST00000526780.6:c.1022T>C	ENSP00000435668.2:p.Leu341Pro
ENST00000527316.6:c.848T>C	ENSP00000435047.2:p.Leu283Pro
ENST00000533800.5:c.272T>C	ENSP00000435011.1:p.Leu91Pro
ENST00000534795.5:c.319+2031T>C
ENST00000682708.1:c.1073T>C	ENSP00000506866.1:p.Leu358Pro
ENST00000683287.1:c.1058T>C	ENSP00000507607.1:p.Leu353Pro
ENST00000683714.1:c.1030T>C	ENSP00000508207.1:p.Cys344Arg
ENST00000684396.1:n.1062T>C
ENST00000685320.1:c.437T>C	ENSP00000509319.1:p.Leu146Pro
ENST00000690257.1:c.926T>C	ENSP00000510750.1:p.Leu309Pro
XM_011544777.1:c.1156T>C	XP_011543079.1:p.Cys386Arg
XM_011544777.2:c.1156T>C	XP_011543079.1:p.Cys386Arg