Canonical Allele Identifier: CA361055239

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137882029T>G , CM000667.2:g.137882029T>G	GRCh38
NC_000005.9:g.137217718T>G , CM000667.1:g.137217718T>G	GRCh37
NC_000005.8:g.137245617T>G	NCBI36
NG_008894.1:g.19174T>G , LRG_201:g.19174T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006790.3:c.740T>G (MYOT) MANE Select	NP_006781.1:p.Phe247Cys
ENST00000239926.9:c.740T>G (MYOT) MANE Select	ENSP00000239926.4:p.Phe247Cys
NM_001135940.1:c.188T>G (MYOT)	NP_001129412.1:p.Phe63Cys
NM_001135940.2:c.188T>G (MYOT)	NP_001129412.1:p.Phe63Cys
NM_001300911.1:c.395T>G (MYOT)	NP_001287840.1:p.Phe132Cys
NM_001300911.2:c.395T>G (MYOT)	NP_001287840.1:p.Phe132Cys
NM_006790.2:c.740T>G , LRG_201t1:c.740T>G (MYOT)	NP_006781.1:p.Phe247Cys
ENST00000239926.8:c.740T>G (MYOT)	ENSP00000239926.4:p.Phe247Cys
ENST00000421631.6:c.188T>G (MYOT)	ENSP00000391185.2:p.Phe63Cys
ENST00000503748.1:n.305T>G (MYOT)
ENST00000509812.5:n.506+1164T>G (MYOT)
ENST00000511254.1:n.251+1164T>G (MYOT)
ENST00000515645.1:c.395T>G (MYOT)	ENSP00000426281.1:p.Phe132Cys
XM_017010060.1:c.155T>G (MYOT)	XP_016865549.1:p.Phe52Cys
XM_017010061.1:c.155T>G (MYOT)	XP_016865550.1:p.Phe52Cys
XM_017010062.1:c.155T>G (MYOT)	XP_016865551.1:p.Phe52Cys
XR_948815.1:n.219+6131A>C (PKD2L2-DT)
XR_948815.2:n.346+6131A>C (PKD2L2-DT)
XR_948816.1:n.57+7118A>C (PKD2L2-DT)