Canonical Allele Identifier: CA3422996
Community Standard Title: NM_006790.3(MYOT):c.653C>T (p.Ala218Val)
Gene: MYOT HGNC NCBI
PKD2L2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137880835C>T , CM000667.2:g.137880835C>T GRCh38
NC_000005.9:g.137216524C>T , CM000667.1:g.137216524C>T GRCh37
NC_000005.8:g.137244423C>T NCBI36
NG_008894.1:g.17980C>T , LRG_201:g.17980C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006790.3:c.653C>T (MYOT) MANE Select NP_006781.1:p.Ala218Val
ENST00000239926.9:c.653C>T (MYOT) MANE Select ENSP00000239926.4:p.Ala218Val
NM_001135940.1:c.101C>T (MYOT) NP_001129412.1:p.Ala34Val
NM_001135940.2:c.101C>T (MYOT) NP_001129412.1:p.Ala34Val
NM_001300911.1:c.308C>T (MYOT) NP_001287840.1:p.Ala103Val
NM_001300911.2:c.308C>T (MYOT) NP_001287840.1:p.Ala103Val
NM_006790.2:c.653C>T , LRG_201t1:c.653C>T (MYOT) NP_006781.1:p.Ala218Val
ENST00000239926.8:c.653C>T (MYOT) ENSP00000239926.4:p.Ala218Val
ENST00000421631.6:c.101C>T (MYOT) ENSP00000391185.2:p.Ala34Val
ENST00000503748.1:n.218C>T (MYOT)
ENST00000509812.5:n.476C>T (MYOT)
ENST00000511254.1:n.221C>T (MYOT)
ENST00000515645.1:c.308C>T (MYOT) ENSP00000426281.1:p.Ala103Val
XM_017010060.1:c.73C>T (MYOT) XP_016865549.1:p.Arg25Cys
XM_017010061.1:c.73C>T (MYOT) XP_016865550.1:p.Arg25Cys
XM_017010062.1:c.73C>T (MYOT) XP_016865551.1:p.Arg25Cys
XR_948815.1:n.219+7325G>A (PKD2L2-DT)
XR_948815.2:n.346+7325G>A (PKD2L2-DT)
XR_948816.1:n.57+8312G>A (PKD2L2-DT)