Canonical Allele Identifier: CA381702348

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146816G>T (hg19) ; chr11:g.71435770G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435770G>T , CM000673.2:g.71435770G>T	GRCh38
NC_000011.9:g.71146816G>T , CM000673.1:g.71146816G>T	GRCh37
NC_000011.8:g.70824464G>T	NCBI36
NG_012655.2:g.17662C>A , LRG_340:g.17662C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1033C>A	ENSP00000435707.3:p.Leu345Met
ENST00000526780.6:c.1033C>A	ENSP00000435668.2:p.Leu345Met
ENST00000527316.6:c.859C>A	ENSP00000435047.2:p.Leu287Met
ENST00000682708.1:c.1084C>A	ENSP00000506866.1:p.Leu362Met
ENST00000683287.1:c.1069C>A	ENSP00000507607.1:p.Leu357Met
ENST00000683714.1:c.1041C>A	ENSP00000508207.1:p.Ala347=
ENST00000684396.1:n.1073C>A
ENST00000685320.1:c.448C>A	ENSP00000509319.1:p.Leu150Met
ENST00000690257.1:c.937C>A	ENSP00000510750.1:p.Leu313Met
ENST00000355527.8:c.1033C>A MANE Select	ENSP00000347717.4:p.Leu345Met
ENST00000355527.7:c.1033C>A	ENSP00000347717.3:p.Leu345Met
ENST00000407721.6:c.1033C>A	ENSP00000384739.2:p.Leu345Met
ENST00000525137.1:c.534C>A	ENSP00000435956.1:p.Ala178=
ENST00000533800.5:c.283C>A	ENSP00000435011.1:p.Leu95Met
ENST00000534795.5:c.319+2042C>A
NM_001163817.1:c.1033C>A	NP_001157289.1:p.Leu345Met
NM_001360.2:c.1033C>A , LRG_340t1:c.1033C>A	NP_001351.2:p.Leu345Met
XM_011544777.1:c.1167C>A	XP_011543079.1:p.Ala389=
XM_011544777.2:c.1167C>A	XP_011543079.1:p.Ala389=
NM_001163817.2:c.1033C>A	NP_001157289.1:p.Leu345Met
NM_001360.3:c.1033C>A MANE Select	NP_001351.2:p.Leu345Met