Canonical Allele Identifier: CA381694462

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71152357A>T (hg19) ; chr11:g.71441311A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441311A>T , CM000673.2:g.71441311A>T	GRCh38
NC_000011.9:g.71152357A>T , CM000673.1:g.71152357A>T	GRCh37
NC_000011.8:g.70830005A>T	NCBI36
NG_012655.2:g.12121T>A , LRG_340:g.12121T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.542T>A	ENSP00000435707.3:p.Leu181Gln
ENST00000526780.6:c.542T>A	ENSP00000435668.2:p.Leu181Gln
ENST00000527316.6:c.368T>A	ENSP00000435047.2:p.Leu123Gln
ENST00000682708.1:c.542T>A	ENSP00000506866.1:p.Leu181Gln
ENST00000682880.1:c.542T>A	ENSP00000507520.1:p.Leu181Gln
ENST00000683287.1:c.578T>A	ENSP00000507607.1:p.Leu193Gln
ENST00000683714.1:c.542T>A	ENSP00000508207.1:p.Leu181Gln
ENST00000683874.1:n.819T>A
ENST00000685320.1:c.-44T>A	ENSP00000509319.1:n.-44T>A
ENST00000690257.1:c.446T>A	ENSP00000510750.1:p.Leu149Gln
ENST00000355527.8:c.542T>A MANE Select	ENSP00000347717.4:p.Leu181Gln
ENST00000355527.7:c.542T>A	ENSP00000347717.3:p.Leu181Gln
ENST00000407721.6:c.542T>A	ENSP00000384739.2:p.Leu181Gln
ENST00000527316.5:c.446T>A	ENSP00000435047.1:p.Leu149Gln
ENST00000534701.1:n.37T>A
NM_001163817.1:c.542T>A	NP_001157289.1:p.Leu181Gln
NM_001360.2:c.542T>A , LRG_340t1:c.542T>A	NP_001351.2:p.Leu181Gln
XM_011544777.1:c.542T>A	XP_011543079.1:p.Leu181Gln
XM_011544777.2:c.542T>A	XP_011543079.1:p.Leu181Gln
NM_001163817.2:c.542T>A	NP_001157289.1:p.Leu181Gln
NM_001360.3:c.542T>A MANE Select	NP_001351.2:p.Leu181Gln