Canonical Allele Identifier: CA222978

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137875917G>C , CM000667.2:g.137875917G>C	GRCh38
NC_000005.9:g.137211606G>C , CM000667.1:g.137211606G>C	GRCh37
NC_000005.8:g.137239505G>C	NCBI36
NG_008894.1:g.13062G>C , LRG_201:g.13062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.445G>C (MYOT) MANE Select	ENSP00000239926.4:p.Glu149Gln
ENST00000239926.8:c.445G>C (MYOT)	ENSP00000239926.4:p.Glu149Gln
ENST00000421631.6:c.-108G>C (MYOT)	ENSP00000391185.2:n.-108G>C
ENST00000509812.5:n.268G>C (MYOT)
ENST00000511625.5:n.268G>C (MYOT)
ENST00000515645.1:c.100G>C (MYOT)	ENSP00000426281.1:p.Glu34Gln
NM_001135940.1:c.-108G>C (MYOT)	NP_001129412.1:n.-108G>C
NM_001300911.1:c.100G>C (MYOT)	NP_001287840.1:p.Glu34Gln
NM_006790.2:c.445G>C , LRG_201t1:c.445G>C (MYOT)	NP_006781.1:p.Glu149Gln
XR_948815.1:n.219+12243C>G (PKD2L2-DT)
XR_948816.1:n.57+13230C>G (PKD2L2-DT)
XM_017010060.1:c.-136G>C (MYOT)	XP_016865549.1:n.-136G>C
XM_017010061.1:c.-136G>C (MYOT)	XP_016865550.1:n.-136G>C
XM_017010062.1:c.-136G>C (MYOT)	XP_016865551.1:n.-136G>C
XR_948815.2:n.346+12243C>G (PKD2L2-DT)
NM_001135940.2:c.-108G>C (MYOT)	NP_001129412.1:n.-108G>C
NM_001300911.2:c.100G>C (MYOT)	NP_001287840.1:p.Glu34Gln
NM_006790.3:c.445G>C (MYOT) MANE Select	NP_006781.1:p.Glu149Gln