Canonical Allele Identifier: CA381700582

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146473C>A (hg19) ; chr11:g.71435427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435427C>A , CM000673.2:g.71435427C>A	GRCh38
NC_000011.9:g.71146473C>A , CM000673.1:g.71146473C>A	GRCh37
NC_000011.8:g.70824121C>A	NCBI36
NG_012655.2:g.18005G>T , LRG_340:g.18005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1376G>T	ENSP00000435707.3:p.Trp459Leu
ENST00000526780.6:c.1376G>T	ENSP00000435668.2:p.Trp459Leu
ENST00000527316.6:c.1202G>T	ENSP00000435047.2:p.Trp401Leu
ENST00000682708.1:c.1427G>T	ENSP00000506866.1:p.Trp476Leu
ENST00000683287.1:c.1412G>T	ENSP00000507607.1:p.Trp471Leu
ENST00000683714.1:c.*139G>T	ENSP00000508207.1:n.*139G>T
ENST00000684396.1:n.1416G>T
ENST00000685320.1:c.791G>T	ENSP00000509319.1:p.Trp264Leu
ENST00000690257.1:c.1280G>T	ENSP00000510750.1:p.Trp427Leu
ENST00000355527.8:c.1376G>T MANE Select	ENSP00000347717.4:p.Trp459Leu
ENST00000355527.7:c.1376G>T	ENSP00000347717.3:p.Trp459Leu
ENST00000407721.6:c.1376G>T	ENSP00000384739.2:p.Trp459Leu
ENST00000525137.1:c.877G>T	ENSP00000435956.1:n.877G>T
ENST00000533800.5:c.611+15G>T	ENSP00000435011.1:n.611+15G>T
ENST00000534795.5:c.319+2385G>T
NM_001163817.1:c.1376G>T	NP_001157289.1:p.Trp459Leu
NM_001360.2:c.1376G>T , LRG_340t1:c.1376G>T	NP_001351.2:p.Trp459Leu
XM_011544777.1:c.*139G>T	XP_011543079.1:n.*139G>T
XM_011544777.2:c.*139G>T	XP_011543079.1:n.*139G>T
NM_001163817.2:c.1376G>T	NP_001157289.1:p.Trp459Leu
NM_001360.3:c.1376G>T MANE Select	NP_001351.2:p.Trp459Leu