Canonical Allele Identifier: CA381702514

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146857T>A (hg19) ; chr11:g.71435811T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435811T>A , CM000673.2:g.71435811T>A	GRCh38
NC_000011.9:g.71146857T>A , CM000673.1:g.71146857T>A	GRCh37
NC_000011.8:g.70824505T>A	NCBI36
NG_012655.2:g.17621A>T , LRG_340:g.17621A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.992A>T	ENSP00000435707.3:p.Gln331Leu
ENST00000526780.6:c.992A>T	ENSP00000435668.2:p.Gln331Leu
ENST00000527316.6:c.818A>T	ENSP00000435047.2:p.Gln273Leu
ENST00000682708.1:c.1043A>T	ENSP00000506866.1:p.Gln348Leu
ENST00000683287.1:c.1028A>T	ENSP00000507607.1:p.Gln343Leu
ENST00000683714.1:c.1000A>T	ENSP00000508207.1:p.Ser334Cys
ENST00000684396.1:n.1032A>T
ENST00000685320.1:c.407A>T	ENSP00000509319.1:p.Gln136Leu
ENST00000690257.1:c.896A>T	ENSP00000510750.1:p.Gln299Leu
ENST00000355527.8:c.992A>T MANE Select	ENSP00000347717.4:p.Gln331Leu
ENST00000355527.7:c.992A>T	ENSP00000347717.3:p.Gln331Leu
ENST00000407721.6:c.992A>T	ENSP00000384739.2:p.Gln331Leu
ENST00000525137.1:c.493A>T	ENSP00000435956.1:p.Ser165Cys
ENST00000533800.5:c.242A>T	ENSP00000435011.1:p.Gln81Leu
ENST00000534795.5:c.319+2001A>T
NM_001163817.1:c.992A>T	NP_001157289.1:p.Gln331Leu
NM_001360.2:c.992A>T , LRG_340t1:c.992A>T	NP_001351.2:p.Gln331Leu
XM_011544777.1:c.1126A>T	XP_011543079.1:p.Ser376Cys
XM_011544777.2:c.1126A>T	XP_011543079.1:p.Ser376Cys
NM_001163817.2:c.992A>T	NP_001157289.1:p.Gln331Leu
NM_001360.3:c.992A>T MANE Select	NP_001351.2:p.Gln331Leu