Canonical Allele Identifier: CA381701765

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146693C>A (hg19) ; chr11:g.71435647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435647C>A , CM000673.2:g.71435647C>A	GRCh38
NC_000011.9:g.71146693C>A , CM000673.1:g.71146693C>A	GRCh37
NC_000011.8:g.70824341C>A	NCBI36
NG_012655.2:g.17785G>T , LRG_340:g.17785G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1156G>T	ENSP00000435707.3:p.Asp386Tyr
ENST00000526780.6:c.1156G>T	ENSP00000435668.2:p.Asp386Tyr
ENST00000527316.6:c.982G>T	ENSP00000435047.2:p.Asp328Tyr
ENST00000682708.1:c.1207G>T	ENSP00000506866.1:p.Asp403Tyr
ENST00000683287.1:c.1192G>T	ENSP00000507607.1:p.Asp398Tyr
ENST00000683714.1:c.1164G>T	ENSP00000508207.1:p.Pro388=
ENST00000684396.1:n.1196G>T
ENST00000685320.1:c.571G>T	ENSP00000509319.1:p.Asp191Tyr
ENST00000690257.1:c.1060G>T	ENSP00000510750.1:p.Asp354Tyr
ENST00000355527.8:c.1156G>T MANE Select	ENSP00000347717.4:p.Asp386Tyr
ENST00000355527.7:c.1156G>T	ENSP00000347717.3:p.Asp386Tyr
ENST00000407721.6:c.1156G>T	ENSP00000384739.2:p.Asp386Tyr
ENST00000525137.1:c.657G>T	ENSP00000435956.1:p.Pro219=
ENST00000533800.5:c.406G>T	ENSP00000435011.1:p.Asp136Tyr
ENST00000534795.5:c.319+2165G>T
NM_001163817.1:c.1156G>T	NP_001157289.1:p.Asp386Tyr
NM_001360.2:c.1156G>T , LRG_340t1:c.1156G>T	NP_001351.2:p.Asp386Tyr
XM_011544777.1:c.1290G>T	XP_011543079.1:p.Pro430=
XM_011544777.2:c.1290G>T	XP_011543079.1:p.Pro430=
NM_001163817.2:c.1156G>T	NP_001157289.1:p.Asp386Tyr
NM_001360.3:c.1156G>T MANE Select	NP_001351.2:p.Asp386Tyr