Canonical Allele Identifier: CA446562061
Gene: MYOT HGNC NCBI
PKD2L2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137886915C>T , CM000667.2:g.137886915C>T GRCh38
NC_000005.9:g.137222604C>T , CM000667.1:g.137222604C>T GRCh37
NC_000005.8:g.137250503C>T NCBI36
NG_008894.1:g.24060C>T , LRG_201:g.24060C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239926.9:c.1242C>T (MYOT) MANE Select ENSP00000239926.4:p.Asn414=
ENST00000239926.8:c.1242C>T (MYOT) ENSP00000239926.4:p.Asn414=
ENST00000421631.6:c.690C>T (MYOT) ENSP00000391185.2:p.Asn230=
ENST00000508938.1:n.216C>T (MYOT)
ENST00000515645.1:c.897C>T (MYOT) ENSP00000426281.1:p.Asn299=
NM_001135940.1:c.690C>T (MYOT) NP_001129412.1:p.Asn230=
NM_001300911.1:c.897C>T (MYOT) NP_001287840.1:p.Asn299=
NM_006790.2:c.1242C>T , LRG_201t1:c.1242C>T (MYOT) NP_006781.1:p.Asn414=
XR_948815.1:n.219+1245G>A (PKD2L2-DT)
XR_948816.1:n.57+2232G>A (PKD2L2-DT)
XM_017010060.1:c.657C>T (MYOT) XP_016865549.1:p.Asn219=
XM_017010061.1:c.657C>T (MYOT) XP_016865550.1:p.Asn219=
XM_017010062.1:c.657C>T (MYOT) XP_016865551.1:p.Asn219=
XR_948815.2:n.346+1245G>A (PKD2L2-DT)
NM_001135940.2:c.690C>T (MYOT) NP_001129412.1:p.Asn230=
NM_001300911.2:c.897C>T (MYOT) NP_001287840.1:p.Asn299=
NM_006790.3:c.1242C>T (MYOT) MANE Select NP_006781.1:p.Asn414=