Canonical Allele Identifier: CA371122271

Gene: POMK

Linked Data

• MyVariant Identifiers: chr8:g.42977573G>C (hg19) ; chr8:g.43122430G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122430G>C , CM000670.2:g.43122430G>C	GRCh38
NC_000008.10:g.42977573G>C , CM000670.1:g.42977573G>C	GRCh37
NC_000008.9:g.43096730G>C	NCBI36
NG_033235.1:g.33925G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.606G>C MANE Select	ENSP00000331258.5:p.Met202Ile
ENST00000614426.2:c.*402G>C	ENSP00000478821.2:n.*402G>C
ENST00000674646.1:c.324G>C	ENSP00000501703.1:p.Met108Ile
ENST00000674676.1:c.324G>C	ENSP00000502544.1:p.Met108Ile
ENST00000674782.1:c.*526G>C	ENSP00000501683.1:n.*526G>C
ENST00000674937.1:c.564G>C	ENSP00000501823.1:p.Met188Ile
ENST00000675322.1:c.324G>C	ENSP00000502235.1:p.Met108Ile
ENST00000675675.1:c.324G>C	ENSP00000501793.1:p.Met108Ile
ENST00000676178.1:c.*391G>C	ENSP00000502007.1:n.*391G>C
ENST00000676193.1:c.606G>C	ENSP00000502774.1:p.Met202Ile
ENST00000331373.9:c.606G>C	ENSP00000331258.5:p.Met202Ile
ENST00000614426.1:c.606G>C	ENSP00000478821.1:p.Met202Ile
NM_001277971.1:c.606G>C	NP_001264900.1:p.Met202Ile
NM_032237.4:c.606G>C	NP_115613.1:p.Met202Ile
XM_011544668.1:c.606G>C	XP_011542970.1:p.Met202Ile
XM_011544669.1:c.606G>C	XP_011542971.1:p.Met202Ile
NM_032237.5:c.606G>C MANE Select	NP_115613.1:p.Met202Ile
NM_001277971.2:c.606G>C	NP_001264900.1:p.Met202Ile