Canonical Allele Identifier: CA4736374

Gene: POMK

Linked Data

• ClinVar Variation Id: 474198
• ClinVar RCV Id: RCV000540312 ; RCV001591279 ; RCV001821615
• dbSNP Id: rs33920561
• ExAC: 8:42977869 T / C
• gnomAD v2: 8-42977869-T-C
• gnomAD v3: 8-43122726-T-C
• gnomAD v4: 8-43122726-T-C
• MyVariant Identifiers: chr8:g.42977869T>C (hg19) ; chr8:g.43122726T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122726T>C , CM000670.2:g.43122726T>C	GRCh38
NC_000008.10:g.42977869T>C , CM000670.1:g.42977869T>C	GRCh37
NC_000008.9:g.43097026T>C	NCBI36
NG_033235.1:g.34221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.902T>C MANE Select	ENSP00000331258.5:p.Met301Thr
ENST00000614426.2:c.*698T>C	ENSP00000478821.2:n.*698T>C
ENST00000674646.1:c.620T>C	ENSP00000501703.1:p.Met207Thr
ENST00000674676.1:c.620T>C	ENSP00000502544.1:p.Met207Thr
ENST00000674782.1:c.*822T>C	ENSP00000501683.1:n.*822T>C
ENST00000674937.1:c.860T>C	ENSP00000501823.1:p.Met287Thr
ENST00000675322.1:c.620T>C	ENSP00000502235.1:p.Met207Thr
ENST00000675675.1:c.620T>C	ENSP00000501793.1:p.Met207Thr
ENST00000676178.1:c.*687T>C	ENSP00000502007.1:n.*687T>C
ENST00000676193.1:c.902T>C	ENSP00000502774.1:p.Met301Thr
ENST00000331373.9:c.902T>C	ENSP00000331258.5:p.Met301Thr
ENST00000614426.1:c.902T>C	ENSP00000478821.1:p.Met301Thr
NM_001277971.1:c.902T>C	NP_001264900.1:p.Met301Thr
NM_032237.4:c.902T>C	NP_115613.1:p.Met301Thr
XM_011544668.1:c.902T>C	XP_011542970.1:p.Met301Thr
XM_011544669.1:c.902T>C	XP_011542971.1:p.Met301Thr
NM_032237.5:c.902T>C MANE Select	NP_115613.1:p.Met301Thr
NM_001277971.2:c.902T>C	NP_001264900.1:p.Met301Thr