Canonical Allele Identifier: CA460787241

Gene: POMK

Linked Data

• MyVariant Identifiers: chr8:g.42977591G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122448G>A , CM000670.2:g.43122448G>A	GRCh38
NC_000008.10:g.42977591G>A , CM000670.1:g.42977591G>A	GRCh37
NC_000008.9:g.43096748G>A	NCBI36
NG_033235.1:g.33943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.624G>A MANE Select	ENSP00000331258.5:p.Leu208=
ENST00000614426.2:c.*420G>A	ENSP00000478821.2:n.*420G>A
ENST00000674646.1:c.342G>A	ENSP00000501703.1:p.Leu114=
ENST00000674676.1:c.342G>A	ENSP00000502544.1:p.Leu114=
ENST00000674782.1:c.*544G>A	ENSP00000501683.1:n.*544G>A
ENST00000674937.1:c.582G>A	ENSP00000501823.1:p.Leu194=
ENST00000675322.1:c.342G>A	ENSP00000502235.1:p.Leu114=
ENST00000675675.1:c.342G>A	ENSP00000501793.1:p.Leu114=
ENST00000676178.1:c.*409G>A	ENSP00000502007.1:n.*409G>A
ENST00000676193.1:c.624G>A	ENSP00000502774.1:p.Leu208=
ENST00000331373.9:c.624G>A	ENSP00000331258.5:p.Leu208=
ENST00000614426.1:c.624G>A	ENSP00000478821.1:p.Leu208=
NM_001277971.1:c.624G>A	NP_001264900.1:p.Leu208=
NM_032237.4:c.624G>A	NP_115613.1:p.Leu208=
XM_011544668.1:c.624G>A	XP_011542970.1:p.Leu208=
XM_011544669.1:c.624G>A	XP_011542971.1:p.Leu208=
NM_032237.5:c.624G>A MANE Select	NP_115613.1:p.Leu208=
NM_001277971.2:c.624G>A	NP_001264900.1:p.Leu208=