Canonical Allele Identifier: CA381702504

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146854A>C (hg19) ; chr11:g.71435808A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435808A>C , CM000673.2:g.71435808A>C	GRCh38
NC_000011.9:g.71146854A>C , CM000673.1:g.71146854A>C	GRCh37
NC_000011.8:g.70824502A>C	NCBI36
NG_012655.2:g.17624T>G , LRG_340:g.17624T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.995T>G	ENSP00000435707.3:p.Leu332Arg
ENST00000526780.6:c.995T>G	ENSP00000435668.2:p.Leu332Arg
ENST00000527316.6:c.821T>G	ENSP00000435047.2:p.Leu274Arg
ENST00000682708.1:c.1046T>G	ENSP00000506866.1:p.Leu349Arg
ENST00000683287.1:c.1031T>G	ENSP00000507607.1:p.Leu344Arg
ENST00000683714.1:c.1003T>G	ENSP00000508207.1:p.Cys335Gly
ENST00000684396.1:n.1035T>G
ENST00000685320.1:c.410T>G	ENSP00000509319.1:p.Leu137Arg
ENST00000690257.1:c.899T>G	ENSP00000510750.1:p.Leu300Arg
ENST00000355527.8:c.995T>G MANE Select	ENSP00000347717.4:p.Leu332Arg
ENST00000355527.7:c.995T>G	ENSP00000347717.3:p.Leu332Arg
ENST00000407721.6:c.995T>G	ENSP00000384739.2:p.Leu332Arg
ENST00000525137.1:c.496T>G	ENSP00000435956.1:p.Cys166Gly
ENST00000533800.5:c.245T>G	ENSP00000435011.1:p.Leu82Arg
ENST00000534795.5:c.319+2004T>G
NM_001163817.1:c.995T>G	NP_001157289.1:p.Leu332Arg
NM_001360.2:c.995T>G , LRG_340t1:c.995T>G	NP_001351.2:p.Leu332Arg
XM_011544777.1:c.1129T>G	XP_011543079.1:p.Cys377Gly
XM_011544777.2:c.1129T>G	XP_011543079.1:p.Cys377Gly
NM_001163817.2:c.995T>G	NP_001157289.1:p.Leu332Arg
NM_001360.3:c.995T>G MANE Select	NP_001351.2:p.Leu332Arg