Canonical Allele Identifier: CA1158040

Gene: GLMP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156293416C>T , CM000663.2:g.156293416C>T	GRCh38
NC_000001.10:g.156263207C>T , CM000663.1:g.156263207C>T	GRCh37
NC_000001.9:g.154529831C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362007.6:c.959G>A MANE Select	ENSP00000354553.1:p.Arg320Gln
ENST00000647767.1:c.959G>A	ENSP00000497576.1:p.Arg320Gln
ENST00000362007.5:c.959G>A	ENSP00000354553.1:p.Arg320Gln
ENST00000472870.5:c.379-296G>A	ENSP00000477180.1:n.379-296G>A
ENST00000476177.6:c.*474G>A	ENSP00000477253.1:n.*474G>A
ENST00000481050.1:c.73G>A
ENST00000482579.1:n.50+202G>A
ENST00000497955.1:n.970G>A
ENST00000612353.4:c.799-207G>A	ENSP00000483691.1:n.799-207G>A
ENST00000614643.4:c.716G>A	ENSP00000480936.1:p.Arg239Gln
ENST00000622703.4:c.701G>A	ENSP00000479149.1:p.Arg234Gln
NM_001256604.1:c.812G>A	NP_001243533.1:p.Arg271Gln
NM_001256605.1:c.701G>A	NP_001243534.1:p.Arg234Gln
NM_001256608.1:c.799-207G>A	NP_001243537.1:n.799-207G>A
NM_001256609.1:c.716G>A	NP_001243538.1:p.Arg239Gln
NM_144580.2:c.959G>A	NP_653181.1:p.Arg320Gln
XM_011509117.1:c.428G>A	XP_011507419.1:p.Arg143Gln
XR_426762.1:n.931+202G>A
XM_011509117.3:c.428G>A	XP_011507419.1:p.Arg143Gln
XR_426762.3:n.935+202G>A
NM_144580.3:c.959G>A MANE Select	NP_653181.1:p.Arg320Gln
NM_001256604.2:c.812G>A	NP_001243533.1:p.Arg271Gln
NM_001256605.2:c.701G>A	NP_001243534.1:p.Arg234Gln
NM_001256608.2:c.799-207G>A	NP_001243537.1:n.799-207G>A
NM_001256609.2:c.716G>A	NP_001243538.1:p.Arg239Gln