Canonical Allele Identifier: CA381700638

Gene: DHCR7

Linked Data

• dbSNP Id: rs1565584548
• MyVariant Identifiers: chr11:g.71146488T>G (hg19) ; chr11:g.71435442T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435442T>G , CM000673.2:g.71435442T>G	GRCh38
NC_000011.9:g.71146488T>G , CM000673.1:g.71146488T>G	GRCh37
NC_000011.8:g.70824136T>G	NCBI36
NG_012655.2:g.17990A>C , LRG_340:g.17990A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1361A>C	ENSP00000435707.3:p.Lys454Thr
ENST00000526780.6:c.1361A>C	ENSP00000435668.2:p.Lys454Thr
ENST00000527316.6:c.1187A>C	ENSP00000435047.2:p.Lys396Thr
ENST00000682708.1:c.1412A>C	ENSP00000506866.1:p.Lys471Thr
ENST00000683287.1:c.1397A>C	ENSP00000507607.1:p.Lys466Thr
ENST00000683714.1:c.*124A>C	ENSP00000508207.1:n.*124A>C
ENST00000684396.1:n.1401A>C
ENST00000685320.1:c.776A>C	ENSP00000509319.1:p.Lys259Thr
ENST00000690257.1:c.1265A>C	ENSP00000510750.1:p.Lys422Thr
ENST00000355527.8:c.1361A>C MANE Select	ENSP00000347717.4:p.Lys454Thr
ENST00000355527.7:c.1361A>C	ENSP00000347717.3:p.Lys454Thr
ENST00000407721.6:c.1361A>C	ENSP00000384739.2:p.Lys454Thr
ENST00000525137.1:c.862A>C	ENSP00000435956.1:n.862A>C
ENST00000533800.5:c.611A>C	ENSP00000435011.1:p.Lys204Thr
ENST00000534795.5:c.319+2370A>C
NM_001163817.1:c.1361A>C	NP_001157289.1:p.Lys454Thr
NM_001360.2:c.1361A>C , LRG_340t1:c.1361A>C	NP_001351.2:p.Lys454Thr
XM_011544777.1:c.*124A>C	XP_011543079.1:n.*124A>C
XM_011544777.2:c.*124A>C	XP_011543079.1:n.*124A>C
NM_001163817.2:c.1361A>C	NP_001157289.1:p.Lys454Thr
NM_001360.3:c.1361A>C MANE Select	NP_001351.2:p.Lys454Thr