Canonical Allele Identifier: CA128097466
Gene: MYOT HGNC NCBI
PKD2L2-DT HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.137870871C>A
gnomAD v3:
5:137870871 C / A
gnomAD v4:
chr5-137870871-C-A
Joint Max Group AF 0.04534244 (AFR)
Genomes Max Group AF 0.04462517 (AFR)
Exomes Max Group AF 0.04505118 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137870871C>A , CM000667.2:g.137870871C>A GRCh38
NG_008894.1:g.8016C>A , LRG_201:g.8016C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239926.9:c.220C>A (MYOT) MANE Select ENSP00000239926.4:p.Gln74Lys
ENST00000239926.8:c.220C>A (MYOT) ENSP00000239926.4:p.Gln74Lys
ENST00000421631.6:c.-197+346C>A (MYOT) ENSP00000391185.2:n.-197+346C>A
ENST00000509812.5:n.179+346C>A (MYOT)
ENST00000511625.5:n.179+346C>A (MYOT)
ENST00000515645.1:c.-120-6C>A (MYOT) ENSP00000426281.1:n.-120-6C>A
NM_001135940.1:c.-197+346C>A (MYOT) NP_001129412.1:n.-197+346C>A
NM_001300911.1:c.-120-6C>A (MYOT) NP_001287840.1:n.-120-6C>A
NM_006790.2:c.220C>A , LRG_201t1:c.220C>A (MYOT) NP_006781.1:p.Gln74Lys
XR_948815.1:n.220-11608G>T (PKD2L2-DT)
XR_948816.1:n.58-11608G>T (PKD2L2-DT)
XM_017010060.1:c.-355-6C>A (MYOT) XP_016865549.1:n.-355-6C>A
XM_017010061.1:c.-361C>A (MYOT) XP_016865550.1:n.-361C>A
XM_017010062.1:c.-225+346C>A (MYOT) XP_016865551.1:n.-225+346C>A
XR_948815.2:n.347-11608G>T (PKD2L2-DT)
NM_001135940.2:c.-197+346C>A (MYOT) NP_001129412.1:n.-197+346C>A
NM_001300911.2:c.-120-6C>A (MYOT) NP_001287840.1:n.-120-6C>A
NM_006790.3:c.220C>A (MYOT) MANE Select NP_006781.1:p.Gln74Lys
Search 100 bp 5'
Search 100 bp 3'