Canonical Allele Identifier: CA4736344

Gene: POMK

Linked Data

• ClinVar Variation Id: 1806636
• ClinVar RCV Id: RCV002474065
• dbSNP Id: rs771065242
• ExAC: 8:42977688 C / G
• gnomAD v2: 8-42977688-C-G
• gnomAD v3: 8-43122545-C-G
• gnomAD v4: 8-43122545-C-G
• MyVariant Identifiers: chr8:g.42977688C>G (hg19) ; chr8:g.43122545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122545C>G , CM000670.2:g.43122545C>G	GRCh38
NC_000008.10:g.42977688C>G , CM000670.1:g.42977688C>G	GRCh37
NC_000008.9:g.43096845C>G	NCBI36
NG_033235.1:g.34040C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.721C>G MANE Select	ENSP00000331258.5:p.Leu241Val
ENST00000614426.2:c.*517C>G	ENSP00000478821.2:n.*517C>G
ENST00000674646.1:c.439C>G	ENSP00000501703.1:p.Leu147Val
ENST00000674676.1:c.439C>G	ENSP00000502544.1:p.Leu147Val
ENST00000674782.1:c.*641C>G	ENSP00000501683.1:n.*641C>G
ENST00000674937.1:c.679C>G	ENSP00000501823.1:p.Leu227Val
ENST00000675322.1:c.439C>G	ENSP00000502235.1:p.Leu147Val
ENST00000675675.1:c.439C>G	ENSP00000501793.1:p.Leu147Val
ENST00000676178.1:c.*506C>G	ENSP00000502007.1:n.*506C>G
ENST00000676193.1:c.721C>G	ENSP00000502774.1:p.Leu241Val
ENST00000331373.9:c.721C>G	ENSP00000331258.5:p.Leu241Val
ENST00000614426.1:c.721C>G	ENSP00000478821.1:p.Leu241Val
NM_001277971.1:c.721C>G	NP_001264900.1:p.Leu241Val
NM_032237.4:c.721C>G	NP_115613.1:p.Leu241Val
XM_011544668.1:c.721C>G	XP_011542970.1:p.Leu241Val
XM_011544669.1:c.721C>G	XP_011542971.1:p.Leu241Val
NM_032237.5:c.721C>G MANE Select	NP_115613.1:p.Leu241Val
NM_001277971.2:c.721C>G	NP_001264900.1:p.Leu241Val