Canonical Allele Identifier: CA371122169

Gene: POMK

Linked Data

• ClinVar Variation Id: 1499885
• ClinVar RCV Id: RCV002013111
• dbSNP Id: rs1241051300
• gnomAD v3: 8-43122380-G-T
• gnomAD v4: 8-43122380-G-T
• MyVariant Identifiers: chr8:g.42977523G>T (hg19) ; chr8:g.43122380G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122380G>T , CM000670.2:g.43122380G>T	GRCh38
NC_000008.10:g.42977523G>T , CM000670.1:g.42977523G>T	GRCh37
NC_000008.9:g.43096680G>T	NCBI36
NG_033235.1:g.33875G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.556G>T MANE Select	ENSP00000331258.5:p.Val186Phe
ENST00000614426.2:c.*352G>T	ENSP00000478821.2:n.*352G>T
ENST00000674646.1:c.274G>T	ENSP00000501703.1:p.Val92Phe
ENST00000674676.1:c.274G>T	ENSP00000502544.1:p.Val92Phe
ENST00000674782.1:c.*476G>T	ENSP00000501683.1:n.*476G>T
ENST00000674937.1:c.514G>T	ENSP00000501823.1:p.Val172Phe
ENST00000675322.1:c.274G>T	ENSP00000502235.1:p.Val92Phe
ENST00000675675.1:c.274G>T	ENSP00000501793.1:p.Val92Phe
ENST00000676178.1:c.*341G>T	ENSP00000502007.1:n.*341G>T
ENST00000676193.1:c.556G>T	ENSP00000502774.1:p.Val186Phe
ENST00000331373.9:c.556G>T	ENSP00000331258.5:p.Val186Phe
ENST00000614426.1:c.556G>T	ENSP00000478821.1:p.Val186Phe
NM_001277971.1:c.556G>T	NP_001264900.1:p.Val186Phe
NM_032237.4:c.556G>T	NP_115613.1:p.Val186Phe
XM_011544668.1:c.556G>T	XP_011542970.1:p.Val186Phe
XM_011544669.1:c.556G>T	XP_011542971.1:p.Val186Phe
NM_032237.5:c.556G>T MANE Select	NP_115613.1:p.Val186Phe
NM_001277971.2:c.556G>T	NP_001264900.1:p.Val186Phe