Canonical Allele Identifier: CA4736299

Gene: POMK

Linked Data

• ClinVar Variation Id: 706643
• ClinVar RCV Id: RCV000877325 ; RCV001556816
• dbSNP Id: rs563599638
• ExAC: 8:42977508 C / T
• gnomAD v2: 8-42977508-C-T
• gnomAD v3: 8-43122365-C-T
• gnomAD v4: 8-43122365-C-T
• MyVariant Identifiers: chr8:g.42977508C>T (hg19) ; chr8:g.43122365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122365C>T , CM000670.2:g.43122365C>T	GRCh38
NC_000008.10:g.42977508C>T , CM000670.1:g.42977508C>T	GRCh37
NC_000008.9:g.43096665C>T	NCBI36
NG_033235.1:g.33860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.541C>T MANE Select	ENSP00000331258.5:p.Leu181=
ENST00000614426.2:c.*337C>T	ENSP00000478821.2:n.*337C>T
ENST00000674646.1:c.259C>T	ENSP00000501703.1:p.Leu87=
ENST00000674676.1:c.259C>T	ENSP00000502544.1:p.Leu87=
ENST00000674782.1:c.*461C>T	ENSP00000501683.1:n.*461C>T
ENST00000674937.1:c.499C>T	ENSP00000501823.1:p.Leu167=
ENST00000675322.1:c.259C>T	ENSP00000502235.1:p.Leu87=
ENST00000675675.1:c.259C>T	ENSP00000501793.1:p.Leu87=
ENST00000676178.1:c.*326C>T	ENSP00000502007.1:n.*326C>T
ENST00000676193.1:c.541C>T	ENSP00000502774.1:p.Leu181=
ENST00000331373.9:c.541C>T	ENSP00000331258.5:p.Leu181=
ENST00000614426.1:c.541C>T	ENSP00000478821.1:p.Leu181=
NM_001277971.1:c.541C>T	NP_001264900.1:p.Leu181=
NM_032237.4:c.541C>T	NP_115613.1:p.Leu181=
XM_011544668.1:c.541C>T	XP_011542970.1:p.Leu181=
XM_011544669.1:c.541C>T	XP_011542971.1:p.Leu181=
NM_032237.5:c.541C>T MANE Select	NP_115613.1:p.Leu181=
NM_001277971.2:c.541C>T	NP_001264900.1:p.Leu181=