Canonical Allele Identifier: CA2095758

Gene: MREG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215944994G>A , CM000664.2:g.215944994G>A	GRCh38
NC_000002.11:g.216809717G>A , CM000664.1:g.216809717G>A	GRCh37
NC_000002.10:g.216517962G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018000.3:c.514C>T MANE Select	NP_060470.2:p.Arg172Cys
ENST00000263268.11:c.514C>T MANE Select	ENSP00000263268.6:p.Arg172Cys
NM_001372188.1:c.664C>T	NP_001359117.1:p.Arg222Cys
NM_001372189.1:c.352C>T	NP_001359118.1:p.Arg118Cys
NM_001372190.1:c.352C>T	NP_001359119.1:p.Arg118Cys
NM_018000.2:c.514C>T	NP_060470.2:p.Arg172Cys
ENST00000263268.10:c.514C>T	ENSP00000263268.6:p.Arg172Cys
ENST00000424992.5:c.352C>T	ENSP00000413302.1:p.Arg118Cys
ENST00000439791.5:c.352C>T	ENSP00000411076.1:p.Arg118Cys
ENST00000620139.4:c.514C>T	ENSP00000484331.1:p.Arg172Cys
XM_011511468.1:c.664C>T	XP_011509770.1:p.Arg222Cys
XM_011511468.2:c.664C>T	XP_011509770.1:p.Arg222Cys
XR_001738842.1:n.810C>T
XR_001738843.1:n.810C>T
XR_001738844.1:n.660C>T
XR_922965.1:n.810C>T