Canonical Allele Identifier: CA460787285

Gene: POMK

Linked Data

• MyVariant Identifiers: chr8:g.42977637T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122494T>C , CM000670.2:g.43122494T>C	GRCh38
NC_000008.10:g.42977637T>C , CM000670.1:g.42977637T>C	GRCh37
NC_000008.9:g.43096794T>C	NCBI36
NG_033235.1:g.33989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.670T>C MANE Select	ENSP00000331258.5:p.Leu224=
ENST00000614426.2:c.*466T>C	ENSP00000478821.2:n.*466T>C
ENST00000674646.1:c.388T>C	ENSP00000501703.1:p.Leu130=
ENST00000674676.1:c.388T>C	ENSP00000502544.1:p.Leu130=
ENST00000674782.1:c.*590T>C	ENSP00000501683.1:n.*590T>C
ENST00000674937.1:c.628T>C	ENSP00000501823.1:p.Leu210=
ENST00000675322.1:c.388T>C	ENSP00000502235.1:p.Leu130=
ENST00000675675.1:c.388T>C	ENSP00000501793.1:p.Leu130=
ENST00000676178.1:c.*455T>C	ENSP00000502007.1:n.*455T>C
ENST00000676193.1:c.670T>C	ENSP00000502774.1:p.Leu224=
ENST00000331373.9:c.670T>C	ENSP00000331258.5:p.Leu224=
ENST00000614426.1:c.670T>C	ENSP00000478821.1:p.Leu224=
NM_001277971.1:c.670T>C	NP_001264900.1:p.Leu224=
NM_032237.4:c.670T>C	NP_115613.1:p.Leu224=
XM_011544668.1:c.670T>C	XP_011542970.1:p.Leu224=
XM_011544669.1:c.670T>C	XP_011542971.1:p.Leu224=
NM_032237.5:c.670T>C MANE Select	NP_115613.1:p.Leu224=
NM_001277971.2:c.670T>C	NP_001264900.1:p.Leu224=