Canonical Allele Identifier: CA381702507

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146855G>C (hg19) ; chr11:g.71435809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435809G>C , CM000673.2:g.71435809G>C	GRCh38
NC_000011.9:g.71146855G>C , CM000673.1:g.71146855G>C	GRCh37
NC_000011.8:g.70824503G>C	NCBI36
NG_012655.2:g.17623C>G , LRG_340:g.17623C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.994C>G	ENSP00000435707.3:p.Leu332Val
ENST00000526780.6:c.994C>G	ENSP00000435668.2:p.Leu332Val
ENST00000527316.6:c.820C>G	ENSP00000435047.2:p.Leu274Val
ENST00000682708.1:c.1045C>G	ENSP00000506866.1:p.Leu349Val
ENST00000683287.1:c.1030C>G	ENSP00000507607.1:p.Leu344Val
ENST00000683714.1:c.1002C>G	ENSP00000508207.1:p.Ser334Arg
ENST00000684396.1:n.1034C>G
ENST00000685320.1:c.409C>G	ENSP00000509319.1:p.Leu137Val
ENST00000690257.1:c.898C>G	ENSP00000510750.1:p.Leu300Val
ENST00000355527.8:c.994C>G MANE Select	ENSP00000347717.4:p.Leu332Val
ENST00000355527.7:c.994C>G	ENSP00000347717.3:p.Leu332Val
ENST00000407721.6:c.994C>G	ENSP00000384739.2:p.Leu332Val
ENST00000525137.1:c.495C>G	ENSP00000435956.1:p.Ser165Arg
ENST00000533800.5:c.244C>G	ENSP00000435011.1:p.Leu82Val
ENST00000534795.5:c.319+2003C>G
NM_001163817.1:c.994C>G	NP_001157289.1:p.Leu332Val
NM_001360.2:c.994C>G , LRG_340t1:c.994C>G	NP_001351.2:p.Leu332Val
XM_011544777.1:c.1128C>G	XP_011543079.1:p.Ser376Arg
XM_011544777.2:c.1128C>G	XP_011543079.1:p.Ser376Arg
NM_001163817.2:c.994C>G	NP_001157289.1:p.Leu332Val
NM_001360.3:c.994C>G MANE Select	NP_001351.2:p.Leu332Val