Canonical Allele Identifier: CA381702581

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146881A>T (hg19) ; chr11:g.71435835A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435835A>T , CM000673.2:g.71435835A>T	GRCh38
NC_000011.9:g.71146881A>T , CM000673.1:g.71146881A>T	GRCh37
NC_000011.8:g.70824529A>T	NCBI36
NG_012655.2:g.17597T>A , LRG_340:g.17597T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.968T>A	ENSP00000435707.3:p.Leu323Gln
ENST00000526780.6:c.968T>A	ENSP00000435668.2:p.Leu323Gln
ENST00000527316.6:c.794T>A	ENSP00000435047.2:p.Leu265Gln
ENST00000682708.1:c.1019T>A	ENSP00000506866.1:p.Leu340Gln
ENST00000683287.1:c.1004T>A	ENSP00000507607.1:p.Leu335Gln
ENST00000683714.1:c.976T>A	ENSP00000508207.1:p.Cys326Ser
ENST00000684396.1:n.1008T>A
ENST00000685320.1:c.383T>A	ENSP00000509319.1:p.Leu128Gln
ENST00000690257.1:c.872T>A	ENSP00000510750.1:p.Leu291Gln
ENST00000355527.8:c.968T>A MANE Select	ENSP00000347717.4:p.Leu323Gln
ENST00000355527.7:c.968T>A	ENSP00000347717.3:p.Leu323Gln
ENST00000407721.6:c.968T>A	ENSP00000384739.2:p.Leu323Gln
ENST00000525137.1:c.469T>A	ENSP00000435956.1:p.Cys157Ser
ENST00000533800.5:c.218T>A	ENSP00000435011.1:p.Leu73Gln
ENST00000534795.5:c.319+1977T>A
NM_001163817.1:c.968T>A	NP_001157289.1:p.Leu323Gln
NM_001360.2:c.968T>A , LRG_340t1:c.968T>A	NP_001351.2:p.Leu323Gln
XM_011544777.1:c.1102T>A	XP_011543079.1:p.Cys368Ser
XM_011544777.2:c.1102T>A	XP_011543079.1:p.Cys368Ser
NM_001163817.2:c.968T>A	NP_001157289.1:p.Leu323Gln
NM_001360.3:c.968T>A MANE Select	NP_001351.2:p.Leu323Gln