Canonical Allele Identifier: CA4736396

Gene: POMK

Linked Data

• ClinVar Variation Id: 541242
• ClinVar RCV Id: RCV000651466 ; RCV003133464
• dbSNP Id: rs762404960
• ExAC: 8:42977991 A / G
• gnomAD v2: 8-42977991-A-G
• gnomAD v3: 8-43122848-A-G
• gnomAD v4: 8-43122848-A-G
• MyVariant Identifiers: chr8:g.42977991A>G (hg19) ; chr8:g.43122848A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122848A>G , CM000670.2:g.43122848A>G	GRCh38
NC_000008.10:g.42977991A>G , CM000670.1:g.42977991A>G	GRCh37
NC_000008.9:g.43097148A>G	NCBI36
NG_033235.1:g.34343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.1024A>G MANE Select	ENSP00000331258.5:p.Met342Val
ENST00000614426.2:c.*820A>G	ENSP00000478821.2:n.*820A>G
ENST00000674646.1:c.742A>G	ENSP00000501703.1:p.Met248Val
ENST00000674676.1:c.742A>G	ENSP00000502544.1:p.Met248Val
ENST00000674782.1:c.*944A>G	ENSP00000501683.1:n.*944A>G
ENST00000674937.1:c.982A>G	ENSP00000501823.1:p.Met328Val
ENST00000675322.1:c.742A>G	ENSP00000502235.1:p.Met248Val
ENST00000675675.1:c.742A>G	ENSP00000501793.1:p.Met248Val
ENST00000676178.1:c.*809A>G	ENSP00000502007.1:n.*809A>G
ENST00000676193.1:c.1024A>G	ENSP00000502774.1:p.Met342Val
ENST00000331373.9:c.1024A>G	ENSP00000331258.5:p.Met342Val
ENST00000614426.1:c.1024A>G	ENSP00000478821.1:p.Met342Val
NM_001277971.1:c.1024A>G	NP_001264900.1:p.Met342Val
NM_032237.4:c.1024A>G	NP_115613.1:p.Met342Val
XM_011544668.1:c.1024A>G	XP_011542970.1:p.Met342Val
XM_011544669.1:c.1024A>G	XP_011542971.1:p.Met342Val
NM_032237.5:c.1024A>G MANE Select	NP_115613.1:p.Met342Val
NM_001277971.2:c.1024A>G	NP_001264900.1:p.Met342Val