Canonical Allele Identifier: CA361477790
Gene: MYOT HGNC NCBI
PKD2L2-DT HGNC NCBI

Linked Data

gnomAD v4: 5-137870677-A-T
MyVariant Identifiers: chr5:g.137206366A>T (hg19) chr5:g.137870677A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137870677A>T , CM000667.2:g.137870677A>T GRCh38
NC_000005.9:g.137206366A>T , CM000667.1:g.137206366A>T GRCh37
NC_000005.8:g.137234265A>T NCBI36
NG_008894.1:g.7822A>T , LRG_201:g.7822A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239926.9:c.26A>T (MYOT) MANE Select ENSP00000239926.4:p.His9Leu
ENST00000239926.8:c.26A>T (MYOT) ENSP00000239926.4:p.His9Leu
ENST00000421631.6:c.-197+152A>T (MYOT) ENSP00000391185.2:n.-197+152A>T
ENST00000509812.5:n.179+152A>T (MYOT)
ENST00000511625.5:n.179+152A>T (MYOT)
ENST00000515645.1:c.-121+152A>T (MYOT) ENSP00000426281.1:n.-121+152A>T
NM_001135940.1:c.-197+152A>T (MYOT) NP_001129412.1:n.-197+152A>T
NM_001300911.1:c.-121+152A>T (MYOT) NP_001287840.1:n.-121+152A>T
NM_006790.2:c.26A>T , LRG_201t1:c.26A>T (MYOT) NP_006781.1:p.His9Leu
XR_948815.1:n.220-11414T>A (PKD2L2-DT)
XR_948816.1:n.58-11414T>A (PKD2L2-DT)
XM_017010060.1:c.-356+152A>T (MYOT) XP_016865549.1:n.-356+152A>T
XM_017010062.1:c.-225+152A>T (MYOT) XP_016865551.1:n.-225+152A>T
XR_948815.2:n.347-11414T>A (PKD2L2-DT)
NM_001135940.2:c.-197+152A>T (MYOT) NP_001129412.1:n.-197+152A>T
NM_001300911.2:c.-121+152A>T (MYOT) NP_001287840.1:n.-121+152A>T
NM_006790.3:c.26A>T (MYOT) MANE Select NP_006781.1:p.His9Leu
Search 100 bp 5'
Search 100 bp 3'