Canonical Allele Identifier: CA4736294

Gene: POMK

Linked Data

• ClinVar Variation Id: 474192
• ClinVar RCV Id: RCV000560869
• dbSNP Id: rs756014333
• ExAC: 8:42977469 A / C
• gnomAD v2: 8-42977469-A-C
• gnomAD v4: 8-43122326-A-C
• MyVariant Identifiers: chr8:g.42977469A>C (hg19) ; chr8:g.43122326A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122326A>C , CM000670.2:g.43122326A>C	GRCh38
NC_000008.10:g.42977469A>C , CM000670.1:g.42977469A>C	GRCh37
NC_000008.9:g.43096626A>C	NCBI36
NG_033235.1:g.33821A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.502A>C MANE Select	ENSP00000331258.5:p.Lys168Gln
ENST00000614426.2:c.*298A>C	ENSP00000478821.2:n.*298A>C
ENST00000674646.1:c.220A>C	ENSP00000501703.1:p.Lys74Gln
ENST00000674676.1:c.220A>C	ENSP00000502544.1:p.Lys74Gln
ENST00000674782.1:c.*422A>C	ENSP00000501683.1:n.*422A>C
ENST00000674937.1:c.460A>C	ENSP00000501823.1:p.Lys154Gln
ENST00000675322.1:c.220A>C	ENSP00000502235.1:p.Lys74Gln
ENST00000675675.1:c.220A>C	ENSP00000501793.1:p.Lys74Gln
ENST00000676178.1:c.*287A>C	ENSP00000502007.1:n.*287A>C
ENST00000676193.1:c.502A>C	ENSP00000502774.1:p.Lys168Gln
ENST00000331373.9:c.502A>C	ENSP00000331258.5:p.Lys168Gln
ENST00000614426.1:c.502A>C	ENSP00000478821.1:p.Lys168Gln
NM_001277971.1:c.502A>C	NP_001264900.1:p.Lys168Gln
NM_032237.4:c.502A>C	NP_115613.1:p.Lys168Gln
XM_011544668.1:c.502A>C	XP_011542970.1:p.Lys168Gln
XM_011544669.1:c.502A>C	XP_011542971.1:p.Lys168Gln
NM_032237.5:c.502A>C MANE Select	NP_115613.1:p.Lys168Gln
NM_001277971.2:c.502A>C	NP_001264900.1:p.Lys168Gln