Canonical Allele Identifier: CA340465
Gene: MYOT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5834
dbSNP Id: rs28937597

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137870821C>T , CM000667.2:g.137870821C>T GRCh38
NC_000005.9:g.137206510C>T , CM000667.1:g.137206510C>T GRCh37
NC_000005.8:g.137234409C>T NCBI36
NG_008894.1:g.7966C>T , LRG_201:g.7966C>T

Transcript Alleles

HGVS Amino-acid change
NM_001135940.1:c.-197+296C>T VV NP_001129412.1:p.=
NM_001300911.1:c.-120-56C>T VV NP_001287840.1:p.=
NM_006790.2:c.170C>T , LRG_201t1:c.170C>T NP_006781.1:p.Thr57Ile
XR_948815.1:n.220-11558G>A
XR_948816.1:n.58-11558G>A
XM_017010060.1:c.-355-56C>T XP_016865549.1:p.=
XM_017010061.1:c.-411C>T XP_016865550.1:p.=
XM_017010062.1:c.-225+296C>T XP_016865551.1:p.=
XR_948815.2:n.347-11558G>A
ENST00000239926.8:c.170C>T ENSP00000239926.4:p.Thr57Ile
ENST00000421631.6:c.-197+296C>T ENSP00000391185.2:p.=
ENST00000509812.5:n.179+296C>T
ENST00000511625.5:n.179+296C>T
ENST00000515645.1:c.-120-56C>T ENSP00000426281.1:p.=