Canonical Allele Identifier: CA1585606843
Gene: MYOT HGNC NCBI
PKD2L2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137870638T= , CM000667.2:g.137870638T= GRCh38
NC_000005.9:g.137206327T= , CM000667.1:g.137206327T= GRCh37
NC_000005.8:g.137234226T= NCBI36
NG_008894.1:g.7783T= , LRG_201:g.7783T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000239926.9:c.-14T= (MYOT) MANE Select ENSP00000239926.4:n.-14T=
ENST00000239926.8:c.-14T= (MYOT) ENSP00000239926.4:n.-14T=
ENST00000421631.6:c.-197+113T= (MYOT) ENSP00000391185.2:n.-197+113T=
ENST00000509812.5:n.179+113T= (MYOT)
ENST00000511625.5:n.179+113T= (MYOT)
ENST00000515645.1:c.-121+113T= (MYOT) ENSP00000426281.1:n.-121+113T=
NM_001135940.1:c.-197+113T= (MYOT) NP_001129412.1:n.-197+113T=
NM_001300911.1:c.-121+113T= (MYOT) NP_001287840.1:n.-121+113T=
NM_006790.2:c.-14T= , LRG_201t1:c.-14T= (MYOT) NP_006781.1:n.-14T=
XR_948815.1:n.220-11375A= (PKD2L2-DT)
XR_948816.1:n.58-11375A= (PKD2L2-DT)
XM_017010060.1:c.-356+113T= (MYOT) XP_016865549.1:n.-356+113T=
XM_017010062.1:c.-225+113T= (MYOT) XP_016865551.1:n.-225+113T=
XR_948815.2:n.347-11375A= (PKD2L2-DT)
NM_001135940.2:c.-197+113T= (MYOT) NP_001129412.1:n.-197+113T=
NM_001300911.2:c.-121+113T= (MYOT) NP_001287840.1:n.-121+113T=
NM_006790.3:c.-14T= (MYOT) MANE Select NP_006781.1:n.-14T=