Canonical Allele Identifier: CA371122869

Gene: POMK

Linked Data

• ClinVar Variation Id: 947914
• ClinVar RCV Id: RCV001219066
• dbSNP Id: rs1811947580
• MyVariant Identifiers: chr8:g.42977841C>T (hg19) ; chr8:g.43122698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122698C>T , CM000670.2:g.43122698C>T	GRCh38
NC_000008.10:g.42977841C>T , CM000670.1:g.42977841C>T	GRCh37
NC_000008.9:g.43096998C>T	NCBI36
NG_033235.1:g.34193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.874C>T MANE Select	ENSP00000331258.5:p.Leu292Phe
ENST00000614426.2:c.*670C>T	ENSP00000478821.2:n.*670C>T
ENST00000674646.1:c.592C>T	ENSP00000501703.1:p.Leu198Phe
ENST00000674676.1:c.592C>T	ENSP00000502544.1:p.Leu198Phe
ENST00000674782.1:c.*794C>T	ENSP00000501683.1:n.*794C>T
ENST00000674937.1:c.832C>T	ENSP00000501823.1:p.Leu278Phe
ENST00000675322.1:c.592C>T	ENSP00000502235.1:p.Leu198Phe
ENST00000675675.1:c.592C>T	ENSP00000501793.1:p.Leu198Phe
ENST00000676178.1:c.*659C>T	ENSP00000502007.1:n.*659C>T
ENST00000676193.1:c.874C>T	ENSP00000502774.1:p.Leu292Phe
ENST00000331373.9:c.874C>T	ENSP00000331258.5:p.Leu292Phe
ENST00000614426.1:c.874C>T	ENSP00000478821.1:p.Leu292Phe
NM_001277971.1:c.874C>T	NP_001264900.1:p.Leu292Phe
NM_032237.4:c.874C>T	NP_115613.1:p.Leu292Phe
XM_011544668.1:c.874C>T	XP_011542970.1:p.Leu292Phe
XM_011544669.1:c.874C>T	XP_011542971.1:p.Leu292Phe
NM_032237.5:c.874C>T MANE Select	NP_115613.1:p.Leu292Phe
NM_001277971.2:c.874C>T	NP_001264900.1:p.Leu292Phe