Canonical Allele Identifier: CA253617
Gene: MYOT HGNC NCBI
PKD2L2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 5835
dbSNP Id: rs121908457

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137870815C>T , CM000667.2:g.137870815C>T GRCh38
NC_000005.9:g.137206504C>T , CM000667.1:g.137206504C>T GRCh37
NC_000005.8:g.137234403C>T NCBI36
NG_008894.1:g.7960C>T , LRG_201:g.7960C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000239926.9:c.164C>T (MYOT) MANE Select ENSP00000239926.4:p.Ser55Phe
ENST00000239926.8:c.164C>T (MYOT) ENSP00000239926.4:p.Ser55Phe
ENST00000421631.6:c.-197+290C>T (MYOT) ENSP00000391185.2:n.-197+290C>T
ENST00000509812.5:n.179+290C>T (MYOT)
ENST00000511625.5:n.179+290C>T (MYOT)
ENST00000515645.1:c.-120-62C>T (MYOT) ENSP00000426281.1:n.-120-62C>T
NM_001135940.1:c.-197+290C>T (MYOT) NP_001129412.1:n.-197+290C>T
NM_001300911.1:c.-120-62C>T (MYOT) NP_001287840.1:n.-120-62C>T
NM_006790.2:c.164C>T , LRG_201t1:c.164C>T (MYOT) NP_006781.1:p.Ser55Phe
XR_948815.1:n.220-11552G>A (PKD2L2-DT)
XR_948816.1:n.58-11552G>A (PKD2L2-DT)
XM_017010060.1:c.-355-62C>T (MYOT) XP_016865549.1:n.-355-62C>T
XM_017010061.1:c.-417C>T (MYOT) XP_016865550.1:n.-417C>T
XM_017010062.1:c.-225+290C>T (MYOT) XP_016865551.1:n.-225+290C>T
XR_948815.2:n.347-11552G>A (PKD2L2-DT)
NM_001135940.2:c.-197+290C>T (MYOT) NP_001129412.1:n.-197+290C>T
NM_001300911.2:c.-120-62C>T (MYOT) NP_001287840.1:n.-120-62C>T
NM_006790.3:c.164C>T (MYOT) MANE Select NP_006781.1:p.Ser55Phe