Canonical Allele Identifier: CA371122385

Gene: POMK

Linked Data

• ClinVar Variation Id: 971345
• ClinVar RCV Id: RCV001247109
• dbSNP Id: rs1811941055
• MyVariant Identifiers: chr8:g.42977628T>C (hg19) ; chr8:g.43122485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122485T>C , CM000670.2:g.43122485T>C	GRCh38
NC_000008.10:g.42977628T>C , CM000670.1:g.42977628T>C	GRCh37
NC_000008.9:g.43096785T>C	NCBI36
NG_033235.1:g.33980T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.661T>C MANE Select	ENSP00000331258.5:p.Phe221Leu
ENST00000614426.2:c.*457T>C	ENSP00000478821.2:n.*457T>C
ENST00000674646.1:c.379T>C	ENSP00000501703.1:p.Phe127Leu
ENST00000674676.1:c.379T>C	ENSP00000502544.1:p.Phe127Leu
ENST00000674782.1:c.*581T>C	ENSP00000501683.1:n.*581T>C
ENST00000674937.1:c.619T>C	ENSP00000501823.1:p.Phe207Leu
ENST00000675322.1:c.379T>C	ENSP00000502235.1:p.Phe127Leu
ENST00000675675.1:c.379T>C	ENSP00000501793.1:p.Phe127Leu
ENST00000676178.1:c.*446T>C	ENSP00000502007.1:n.*446T>C
ENST00000676193.1:c.661T>C	ENSP00000502774.1:p.Phe221Leu
ENST00000331373.9:c.661T>C	ENSP00000331258.5:p.Phe221Leu
ENST00000614426.1:c.661T>C	ENSP00000478821.1:p.Phe221Leu
NM_001277971.1:c.661T>C	NP_001264900.1:p.Phe221Leu
NM_032237.4:c.661T>C	NP_115613.1:p.Phe221Leu
XM_011544668.1:c.661T>C	XP_011542970.1:p.Phe221Leu
XM_011544669.1:c.661T>C	XP_011542971.1:p.Phe221Leu
NM_032237.5:c.661T>C MANE Select	NP_115613.1:p.Phe221Leu
NM_001277971.2:c.661T>C	NP_001264900.1:p.Phe221Leu