Canonical Allele Identifier: CA460787440

Gene: POMK

Linked Data

• ClinVar Variation Id: 2122321
• ClinVar RCV Id: RCV003046810
• MyVariant Identifiers: chr8:g.42977712C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122569C>T , CM000670.2:g.43122569C>T	GRCh38
NC_000008.10:g.42977712C>T , CM000670.1:g.42977712C>T	GRCh37
NC_000008.9:g.43096869C>T	NCBI36
NG_033235.1:g.34064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.745C>T MANE Select	ENSP00000331258.5:p.Leu249=
ENST00000614426.2:c.*541C>T	ENSP00000478821.2:n.*541C>T
ENST00000674646.1:c.463C>T	ENSP00000501703.1:p.Leu155=
ENST00000674676.1:c.463C>T	ENSP00000502544.1:p.Leu155=
ENST00000674782.1:c.*665C>T	ENSP00000501683.1:n.*665C>T
ENST00000674937.1:c.703C>T	ENSP00000501823.1:p.Leu235=
ENST00000675322.1:c.463C>T	ENSP00000502235.1:p.Leu155=
ENST00000675675.1:c.463C>T	ENSP00000501793.1:p.Leu155=
ENST00000676178.1:c.*530C>T	ENSP00000502007.1:n.*530C>T
ENST00000676193.1:c.745C>T	ENSP00000502774.1:p.Leu249=
ENST00000331373.9:c.745C>T	ENSP00000331258.5:p.Leu249=
ENST00000614426.1:c.745C>T	ENSP00000478821.1:p.Leu249=
NM_001277971.1:c.745C>T	NP_001264900.1:p.Leu249=
NM_032237.4:c.745C>T	NP_115613.1:p.Leu249=
XM_011544668.1:c.745C>T	XP_011542970.1:p.Leu249=
XM_011544669.1:c.745C>T	XP_011542971.1:p.Leu249=
NM_032237.5:c.745C>T MANE Select	NP_115613.1:p.Leu249=
NM_001277971.2:c.745C>T	NP_001264900.1:p.Leu249=