Canonical Allele Identifier: CA4736325

Gene: POMK

Linked Data

• ClinVar Variation Id: 262021
• ClinVar RCV Id: RCV000245749 ; RCV000549888 ; RCV003311734
• dbSNP Id: rs34040483
• ExAC: 8:42977591 G / C
• gnomAD v2: 8-42977591-G-C
• gnomAD v3: 8-43122448-G-C
• gnomAD v4: 8-43122448-G-C
• MyVariant Identifiers: chr8:g.42977591G>C (hg19) ; chr8:g.43122448G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122448G>C , CM000670.2:g.43122448G>C	GRCh38
NC_000008.10:g.42977591G>C , CM000670.1:g.42977591G>C	GRCh37
NC_000008.9:g.43096748G>C	NCBI36
NG_033235.1:g.33943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.624G>C MANE Select	ENSP00000331258.5:p.Leu208=
ENST00000614426.2:c.*420G>C	ENSP00000478821.2:n.*420G>C
ENST00000674646.1:c.342G>C	ENSP00000501703.1:p.Leu114=
ENST00000674676.1:c.342G>C	ENSP00000502544.1:p.Leu114=
ENST00000674782.1:c.*544G>C	ENSP00000501683.1:n.*544G>C
ENST00000674937.1:c.582G>C	ENSP00000501823.1:p.Leu194=
ENST00000675322.1:c.342G>C	ENSP00000502235.1:p.Leu114=
ENST00000675675.1:c.342G>C	ENSP00000501793.1:p.Leu114=
ENST00000676178.1:c.*409G>C	ENSP00000502007.1:n.*409G>C
ENST00000676193.1:c.624G>C	ENSP00000502774.1:p.Leu208=
ENST00000331373.9:c.624G>C	ENSP00000331258.5:p.Leu208=
ENST00000614426.1:c.624G>C	ENSP00000478821.1:p.Leu208=
NM_001277971.1:c.624G>C	NP_001264900.1:p.Leu208=
NM_032237.4:c.624G>C	NP_115613.1:p.Leu208=
XM_011544668.1:c.624G>C	XP_011542970.1:p.Leu208=
XM_011544669.1:c.624G>C	XP_011542971.1:p.Leu208=
NM_032237.5:c.624G>C MANE Select	NP_115613.1:p.Leu208=
NM_001277971.2:c.624G>C	NP_001264900.1:p.Leu208=