Canonical Allele Identifier: CA153840

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137882069G>A , CM000667.2:g.137882069G>A	GRCh38
NC_000005.9:g.137217758G>A , CM000667.1:g.137217758G>A	GRCh37
NC_000005.8:g.137245657G>A	NCBI36
NG_008894.1:g.19214G>A , LRG_201:g.19214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.780G>A (MYOT) MANE Select	ENSP00000239926.4:p.Ser260=
ENST00000239926.8:c.780G>A (MYOT)	ENSP00000239926.4:p.Ser260=
ENST00000421631.6:c.228G>A (MYOT)	ENSP00000391185.2:p.Ser76=
ENST00000503748.1:n.345G>A (MYOT)
ENST00000509812.5:n.506+1204G>A (MYOT)
ENST00000511254.1:n.251+1204G>A (MYOT)
ENST00000515645.1:c.435G>A (MYOT)	ENSP00000426281.1:p.Ser145=
NM_001135940.1:c.228G>A (MYOT)	NP_001129412.1:p.Ser76=
NM_001300911.1:c.435G>A (MYOT)	NP_001287840.1:p.Ser145=
NM_006790.2:c.780G>A , LRG_201t1:c.780G>A (MYOT)	NP_006781.1:p.Ser260=
XR_948815.1:n.219+6091C>T (PKD2L2-DT)
XR_948816.1:n.57+7078C>T (PKD2L2-DT)
XM_017010060.1:c.195G>A (MYOT)	XP_016865549.1:p.Ser65=
XM_017010061.1:c.195G>A (MYOT)	XP_016865550.1:p.Ser65=
XM_017010062.1:c.195G>A (MYOT)	XP_016865551.1:p.Ser65=
XR_948815.2:n.346+6091C>T (PKD2L2-DT)
NM_001135940.2:c.228G>A (MYOT)	NP_001129412.1:p.Ser76=
NM_001300911.2:c.435G>A (MYOT)	NP_001287840.1:p.Ser145=
NM_006790.3:c.780G>A (MYOT) MANE Select	NP_006781.1:p.Ser260=