Canonical Allele Identifier: CA6333093
Gene: CLMP HGNC NCBI

Linked Data

ClinVar Variation Id: 224071
ClinVar RCV Id: RCV000236558 RCV001847943 RCV002517422
dbSNP Id: rs765907815
ExAC: 11:122954436 G / A
gnomAD v2: 11-122954436-G-A
gnomAD v4: 11-123083728-G-A
MyVariant Identifiers: chr11:g.122954436G>A (hg19) chr11:g.123083728G>A (hg38)
PubMed: PMID:27352967
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.123083728G>A , CM000673.2:g.123083728G>A GRCh38
NC_000011.9:g.122954436G>A , CM000673.1:g.122954436G>A GRCh37
NC_000011.8:g.122459646G>A NCBI36
NG_042818.1:g.116578C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000448775.4:c.508C>T MANE Select ENSP00000405577.2:p.Arg170Ter
ENST00000448775.3:c.508C>T ENSP00000405577.2:p.Arg170Ter
ENST00000527977.5:n.323C>T
ENST00000529128.1:n.494C>T
ENST00000530371.5:n.9C>T
NM_024769.2:c.508C>T NP_079045.1:p.Arg170Ter
NM_024769.3:c.508C>T NP_079045.1:p.Arg170Ter
XM_011542998.1:c.508C>T XP_011541300.1:p.Arg170Ter
XM_011542999.1:c.508C>T XP_011541301.1:p.Arg170Ter
XR_429008.2:n.415-843G>A
NM_024769.4:c.508C>T NP_079045.1:p.Arg170Ter
NM_024769.5:c.508C>T MANE Select NP_079045.1:p.Arg170Ter
Search 100 bp 5'
Search 100 bp 3'