Canonical Allele Identifier: CA381702364

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146821A>G (hg19) ; chr11:g.71435775A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435775A>G , CM000673.2:g.71435775A>G	GRCh38
NC_000011.9:g.71146821A>G , CM000673.1:g.71146821A>G	GRCh37
NC_000011.8:g.70824469A>G	NCBI36
NG_012655.2:g.17657T>C , LRG_340:g.17657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1028T>C	ENSP00000435707.3:p.Leu343Pro
ENST00000526780.6:c.1028T>C	ENSP00000435668.2:p.Leu343Pro
ENST00000527316.6:c.854T>C	ENSP00000435047.2:p.Leu285Pro
ENST00000682708.1:c.1079T>C	ENSP00000506866.1:p.Leu360Pro
ENST00000683287.1:c.1064T>C	ENSP00000507607.1:p.Leu355Pro
ENST00000683714.1:c.1036T>C	ENSP00000508207.1:p.Trp346Arg
ENST00000684396.1:n.1068T>C
ENST00000685320.1:c.443T>C	ENSP00000509319.1:p.Leu148Pro
ENST00000690257.1:c.932T>C	ENSP00000510750.1:p.Leu311Pro
ENST00000355527.8:c.1028T>C MANE Select	ENSP00000347717.4:p.Leu343Pro
ENST00000355527.7:c.1028T>C	ENSP00000347717.3:p.Leu343Pro
ENST00000407721.6:c.1028T>C	ENSP00000384739.2:p.Leu343Pro
ENST00000525137.1:c.529T>C	ENSP00000435956.1:p.Trp177Arg
ENST00000533800.5:c.278T>C	ENSP00000435011.1:p.Leu93Pro
ENST00000534795.5:c.319+2037T>C
NM_001163817.1:c.1028T>C	NP_001157289.1:p.Leu343Pro
NM_001360.2:c.1028T>C , LRG_340t1:c.1028T>C	NP_001351.2:p.Leu343Pro
XM_011544777.1:c.1162T>C	XP_011543079.1:p.Trp388Arg
XM_011544777.2:c.1162T>C	XP_011543079.1:p.Trp388Arg
NM_001163817.2:c.1028T>C	NP_001157289.1:p.Leu343Pro
NM_001360.3:c.1028T>C MANE Select	NP_001351.2:p.Leu343Pro