Canonical Allele Identifier: CA4736315

Gene: POMK

Linked Data

• ClinVar Variation Id: 845543
• ClinVar RCV Id: RCV001048628 ; RCV001548598
• dbSNP Id: rs146214675
• ExAC: 8:42977566 G / T
• gnomAD v2: 8-42977566-G-T
• gnomAD v3: 8-43122423-G-T
• gnomAD v4: 8-43122423-G-T
• MyVariant Identifiers: chr8:g.42977566G>T (hg19) ; chr8:g.43122423G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122423G>T , CM000670.2:g.43122423G>T	GRCh38
NC_000008.10:g.42977566G>T , CM000670.1:g.42977566G>T	GRCh37
NC_000008.9:g.43096723G>T	NCBI36
NG_033235.1:g.33918G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.599G>T MANE Select	ENSP00000331258.5:p.Arg200Leu
ENST00000614426.2:c.*395G>T	ENSP00000478821.2:n.*395G>T
ENST00000674646.1:c.317G>T	ENSP00000501703.1:p.Arg106Leu
ENST00000674676.1:c.317G>T	ENSP00000502544.1:p.Arg106Leu
ENST00000674782.1:c.*519G>T	ENSP00000501683.1:n.*519G>T
ENST00000674937.1:c.557G>T	ENSP00000501823.1:p.Arg186Leu
ENST00000675322.1:c.317G>T	ENSP00000502235.1:p.Arg106Leu
ENST00000675675.1:c.317G>T	ENSP00000501793.1:p.Arg106Leu
ENST00000676178.1:c.*384G>T	ENSP00000502007.1:n.*384G>T
ENST00000676193.1:c.599G>T	ENSP00000502774.1:p.Arg200Leu
ENST00000331373.9:c.599G>T	ENSP00000331258.5:p.Arg200Leu
ENST00000614426.1:c.599G>T	ENSP00000478821.1:p.Arg200Leu
NM_001277971.1:c.599G>T	NP_001264900.1:p.Arg200Leu
NM_032237.4:c.599G>T	NP_115613.1:p.Arg200Leu
XM_011544668.1:c.599G>T	XP_011542970.1:p.Arg200Leu
XM_011544669.1:c.599G>T	XP_011542971.1:p.Arg200Leu
NM_032237.5:c.599G>T MANE Select	NP_115613.1:p.Arg200Leu
NM_001277971.2:c.599G>T	NP_001264900.1:p.Arg200Leu