Canonical Allele Identifier: CA4736382

Gene: POMK

Linked Data

• ClinVar Variation Id: 813966
• ClinVar RCV Id: RCV001004956
• dbSNP Id: rs747083630
• ExAC: 8:42977932 C / T
• gnomAD v2: 8-42977932-C-T
• gnomAD v4: 8-43122789-C-T
• MyVariant Identifiers: chr8:g.42977932C>T (hg19) ; chr8:g.43122789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122789C>T , CM000670.2:g.43122789C>T	GRCh38
NC_000008.10:g.42977932C>T , CM000670.1:g.42977932C>T	GRCh37
NC_000008.9:g.43097089C>T	NCBI36
NG_033235.1:g.34284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.965C>T MANE Select	ENSP00000331258.5:p.Pro322Leu
ENST00000614426.2:c.*761C>T	ENSP00000478821.2:n.*761C>T
ENST00000674646.1:c.683C>T	ENSP00000501703.1:p.Pro228Leu
ENST00000674676.1:c.683C>T	ENSP00000502544.1:p.Pro228Leu
ENST00000674782.1:c.*885C>T	ENSP00000501683.1:n.*885C>T
ENST00000674937.1:c.923C>T	ENSP00000501823.1:p.Pro308Leu
ENST00000675322.1:c.683C>T	ENSP00000502235.1:p.Pro228Leu
ENST00000675675.1:c.683C>T	ENSP00000501793.1:p.Pro228Leu
ENST00000676178.1:c.*750C>T	ENSP00000502007.1:n.*750C>T
ENST00000676193.1:c.965C>T	ENSP00000502774.1:p.Pro322Leu
ENST00000331373.9:c.965C>T	ENSP00000331258.5:p.Pro322Leu
ENST00000614426.1:c.965C>T	ENSP00000478821.1:p.Pro322Leu
NM_001277971.1:c.965C>T	NP_001264900.1:p.Pro322Leu
NM_032237.4:c.965C>T	NP_115613.1:p.Pro322Leu
XM_011544668.1:c.965C>T	XP_011542970.1:p.Pro322Leu
XM_011544669.1:c.965C>T	XP_011542971.1:p.Pro322Leu
NM_032237.5:c.965C>T MANE Select	NP_115613.1:p.Pro322Leu
NM_001277971.2:c.965C>T	NP_001264900.1:p.Pro322Leu