Canonical Allele Identifier: CA156434

Gene: POMK

Linked Data

• ClinVar Variation Id: 133346
• ClinVar RCV Id: RCV000119846 ; RCV000148014
• dbSNP Id: rs587777423
• MyVariant Identifiers: chr8:g.42977292C>T (hg19) ; chr8:g.43122149C>T (hg38)
• PubMed: PMID:24556084 ; PMID:24925318

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122149C>T , CM000670.2:g.43122149C>T	GRCh38
NC_000008.10:g.42977292C>T , CM000670.1:g.42977292C>T	GRCh37
NC_000008.9:g.43096449C>T	NCBI36
NG_033235.1:g.33644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.325C>T MANE Select	ENSP00000331258.5:p.Gln109Ter
ENST00000614426.2:c.*121C>T	ENSP00000478821.2:n.*121C>T
ENST00000674646.1:c.43C>T	ENSP00000501703.1:p.Gln15Ter
ENST00000674676.1:c.43C>T	ENSP00000502544.1:p.Gln15Ter
ENST00000674782.1:c.*245C>T	ENSP00000501683.1:n.*245C>T
ENST00000674937.1:c.283C>T	ENSP00000501823.1:p.Gln95Ter
ENST00000675322.1:c.43C>T	ENSP00000502235.1:p.Gln15Ter
ENST00000675675.1:c.43C>T	ENSP00000501793.1:p.Gln15Ter
ENST00000676178.1:c.*110C>T	ENSP00000502007.1:n.*110C>T
ENST00000676193.1:c.325C>T	ENSP00000502774.1:p.Gln109Ter
ENST00000331373.9:c.325C>T	ENSP00000331258.5:p.Gln109Ter
ENST00000518991.5:c.325C>T	ENSP00000429090.1:p.Gln109Ter
ENST00000614426.1:c.325C>T	ENSP00000478821.1:p.Gln109Ter
NM_001277971.1:c.325C>T	NP_001264900.1:p.Gln109Ter
NM_032237.4:c.325C>T	NP_115613.1:p.Gln109Ter
XM_011544668.1:c.325C>T	XP_011542970.1:p.Gln109Ter
XM_011544669.1:c.325C>T	XP_011542971.1:p.Gln109Ter
NM_032237.5:c.325C>T MANE Select	NP_115613.1:p.Gln109Ter
NM_001277971.2:c.325C>T	NP_001264900.1:p.Gln109Ter