Canonical Allele Identifier: CA371122030

Gene: POMK

Linked Data

• MyVariant Identifiers: chr8:g.42977463C>A (hg19) ; chr8:g.43122320C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122320C>A , CM000670.2:g.43122320C>A	GRCh38
NC_000008.10:g.42977463C>A , CM000670.1:g.42977463C>A	GRCh37
NC_000008.9:g.43096620C>A	NCBI36
NG_033235.1:g.33815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.496C>A MANE Select	ENSP00000331258.5:p.Leu166Ile
ENST00000614426.2:c.*292C>A	ENSP00000478821.2:n.*292C>A
ENST00000674646.1:c.214C>A	ENSP00000501703.1:p.Leu72Ile
ENST00000674676.1:c.214C>A	ENSP00000502544.1:p.Leu72Ile
ENST00000674782.1:c.*416C>A	ENSP00000501683.1:n.*416C>A
ENST00000674937.1:c.454C>A	ENSP00000501823.1:p.Leu152Ile
ENST00000675322.1:c.214C>A	ENSP00000502235.1:p.Leu72Ile
ENST00000675675.1:c.214C>A	ENSP00000501793.1:p.Leu72Ile
ENST00000676178.1:c.*281C>A	ENSP00000502007.1:n.*281C>A
ENST00000676193.1:c.496C>A	ENSP00000502774.1:p.Leu166Ile
ENST00000331373.9:c.496C>A	ENSP00000331258.5:p.Leu166Ile
ENST00000614426.1:c.496C>A	ENSP00000478821.1:p.Leu166Ile
NM_001277971.1:c.496C>A	NP_001264900.1:p.Leu166Ile
NM_032237.4:c.496C>A	NP_115613.1:p.Leu166Ile
XM_011544668.1:c.496C>A	XP_011542970.1:p.Leu166Ile
XM_011544669.1:c.496C>A	XP_011542971.1:p.Leu166Ile
NM_032237.5:c.496C>A MANE Select	NP_115613.1:p.Leu166Ile
NM_001277971.2:c.496C>A	NP_001264900.1:p.Leu166Ile