Canonical Allele Identifier: CA381696207

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71155086T>A (hg19) ; chr11:g.71444040T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444040T>A , CM000673.2:g.71444040T>A	GRCh38
NC_000011.9:g.71155086T>A , CM000673.1:g.71155086T>A	GRCh37
NC_000011.8:g.70832734T>A	NCBI36
NG_012655.2:g.9392A>T , LRG_340:g.9392A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.274A>T	ENSP00000435707.3:p.Ile92Leu
ENST00000526780.6:c.274A>T	ENSP00000435668.2:p.Ile92Leu
ENST00000527316.6:c.100A>T	ENSP00000435047.2:p.Ile34Leu
ENST00000529990.6:c.100A>T	ENSP00000435058.2:p.Ile34Leu
ENST00000682708.1:c.274A>T	ENSP00000506866.1:p.Ile92Leu
ENST00000682880.1:c.274A>T	ENSP00000507520.1:p.Ile92Leu
ENST00000683287.1:c.274A>T	ENSP00000507607.1:p.Ile92Leu
ENST00000683714.1:c.274A>T	ENSP00000508207.1:p.Ile92Leu
ENST00000683874.1:n.551A>T
ENST00000685320.1:c.-312A>T	ENSP00000509319.1:n.-312A>T
ENST00000690257.1:c.178A>T	ENSP00000510750.1:p.Ile60Leu
ENST00000355527.8:c.274A>T MANE Select	ENSP00000347717.4:p.Ile92Leu
ENST00000355527.7:c.274A>T	ENSP00000347717.3:p.Ile92Leu
ENST00000407721.6:c.274A>T	ENSP00000384739.2:p.Ile92Leu
ENST00000525346.5:c.274A>T	ENSP00000435707.2:p.Ile92Leu
ENST00000526780.5:c.274A>T	ENSP00000435668.1:p.Ile92Leu
ENST00000527316.5:c.178A>T	ENSP00000435047.1:p.Ile60Leu
ENST00000529990.5:c.214A>T	ENSP00000435058.1:p.Ile72Leu
ENST00000531364.5:c.274A>T	ENSP00000432589.1:p.Ile92Leu
NM_001163817.1:c.274A>T	NP_001157289.1:p.Ile92Leu
NM_001360.2:c.274A>T , LRG_340t1:c.274A>T	NP_001351.2:p.Ile92Leu
XM_011544777.1:c.274A>T	XP_011543079.1:p.Ile92Leu
XM_011544777.2:c.274A>T	XP_011543079.1:p.Ile92Leu
NM_001163817.2:c.274A>T	NP_001157289.1:p.Ile92Leu
NM_001360.3:c.274A>T MANE Select	NP_001351.2:p.Ile92Leu