Canonical Allele Identifier: CA381700800

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146516G>T (hg19) ; chr11:g.71435470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435470G>T , CM000673.2:g.71435470G>T	GRCh38
NC_000011.9:g.71146516G>T , CM000673.1:g.71146516G>T	GRCh37
NC_000011.8:g.70824164G>T	NCBI36
NG_012655.2:g.17962C>A , LRG_340:g.17962C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1333C>A	ENSP00000435707.3:p.Leu445Ile
ENST00000526780.6:c.1333C>A	ENSP00000435668.2:p.Leu445Ile
ENST00000527316.6:c.1159C>A	ENSP00000435047.2:p.Leu387Ile
ENST00000682708.1:c.1384C>A	ENSP00000506866.1:p.Leu462Ile
ENST00000683287.1:c.1369C>A	ENSP00000507607.1:p.Leu457Ile
ENST00000683714.1:c.*96C>A	ENSP00000508207.1:n.*96C>A
ENST00000684396.1:n.1373C>A
ENST00000685320.1:c.748C>A	ENSP00000509319.1:p.Leu250Ile
ENST00000690257.1:c.1237C>A	ENSP00000510750.1:p.Leu413Ile
ENST00000355527.8:c.1333C>A MANE Select	ENSP00000347717.4:p.Leu445Ile
ENST00000355527.7:c.1333C>A	ENSP00000347717.3:p.Leu445Ile
ENST00000407721.6:c.1333C>A	ENSP00000384739.2:p.Leu445Ile
ENST00000525137.1:c.834C>A	ENSP00000435956.1:n.834C>A
ENST00000533800.5:c.583C>A	ENSP00000435011.1:p.Leu195Ile
ENST00000534795.5:c.319+2342C>A
NM_001163817.1:c.1333C>A	NP_001157289.1:p.Leu445Ile
NM_001360.2:c.1333C>A , LRG_340t1:c.1333C>A	NP_001351.2:p.Leu445Ile
XM_011544777.1:c.*96C>A	XP_011543079.1:n.*96C>A
XM_011544777.2:c.*96C>A	XP_011543079.1:n.*96C>A
NM_001163817.2:c.1333C>A	NP_001157289.1:p.Leu445Ile
NM_001360.3:c.1333C>A MANE Select	NP_001351.2:p.Leu445Ile