Canonical Allele Identifier: CA371122739

Gene: POMK

Linked Data

• MyVariant Identifiers: chr8:g.42977786G>C (hg19) ; chr8:g.43122643G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122643G>C , CM000670.2:g.43122643G>C	GRCh38
NC_000008.10:g.42977786G>C , CM000670.1:g.42977786G>C	GRCh37
NC_000008.9:g.43096943G>C	NCBI36
NG_033235.1:g.34138G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000331373.10:c.819G>C MANE Select	ENSP00000331258.5:p.Met273Ile
ENST00000614426.2:c.*615G>C	ENSP00000478821.2:n.*615G>C
ENST00000674646.1:c.537G>C	ENSP00000501703.1:p.Met179Ile
ENST00000674676.1:c.537G>C	ENSP00000502544.1:p.Met179Ile
ENST00000674782.1:c.*739G>C	ENSP00000501683.1:n.*739G>C
ENST00000674937.1:c.777G>C	ENSP00000501823.1:p.Met259Ile
ENST00000675322.1:c.537G>C	ENSP00000502235.1:p.Met179Ile
ENST00000675675.1:c.537G>C	ENSP00000501793.1:p.Met179Ile
ENST00000676178.1:c.*604G>C	ENSP00000502007.1:n.*604G>C
ENST00000676193.1:c.819G>C	ENSP00000502774.1:p.Met273Ile
ENST00000331373.9:c.819G>C	ENSP00000331258.5:p.Met273Ile
ENST00000614426.1:c.819G>C	ENSP00000478821.1:p.Met273Ile
NM_001277971.1:c.819G>C	NP_001264900.1:p.Met273Ile
NM_032237.4:c.819G>C	NP_115613.1:p.Met273Ile
XM_011544668.1:c.819G>C	XP_011542970.1:p.Met273Ile
XM_011544669.1:c.819G>C	XP_011542971.1:p.Met273Ile
NM_032237.5:c.819G>C MANE Select	NP_115613.1:p.Met273Ile
NM_001277971.2:c.819G>C	NP_001264900.1:p.Met273Ile