Canonical Allele Identifier: CA214420

Gene: CLMP

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.123074702C>T , CM000673.2:g.123074702C>T	GRCh38
NC_000011.9:g.122945410C>T , CM000673.1:g.122945410C>T	GRCh37
NC_000011.8:g.122450620C>T	NCBI36
NG_042818.1:g.125604G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024769.5:c.821G>A MANE Select	NP_079045.1:p.Arg274Gln
ENST00000448775.4:c.821G>A MANE Select	ENSP00000405577.2:p.Arg274Gln
NM_024769.2:c.821G>A	NP_079045.1:p.Arg274Gln
NM_024769.3:c.821G>A	NP_079045.1:p.Arg274Gln
NM_024769.4:c.821G>A	NP_079045.1:p.Arg274Gln
ENST00000448775.3:c.821G>A	ENSP00000405577.2:p.Arg274Gln
ENST00000527977.5:n.643G>A
ENST00000530371.5:n.295G>A
XM_011542998.1:c.*147G>A	XP_011541300.1:n.*147G>A
XM_011542999.1:c.680-928G>A	XP_011541301.1:n.680-928G>A
XR_429008.2:n.415-9869C>T