Canonical Allele Identifier: CA1585606923

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870815C= , CM000667.2:g.137870815C=	GRCh38
NC_000005.9:g.137206504C= , CM000667.1:g.137206504C=	GRCh37
NC_000005.8:g.137234403C=	NCBI36
NG_008894.1:g.7960C= , LRG_201:g.7960C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.164C= (MYOT) MANE Select	ENSP00000239926.4:p.Ser55=
ENST00000239926.8:c.164C= (MYOT)	ENSP00000239926.4:p.Ser55=
ENST00000421631.6:c.-197+290C= (MYOT)	ENSP00000391185.2:n.-197+290C=
ENST00000509812.5:n.179+290C= (MYOT)
ENST00000511625.5:n.179+290C= (MYOT)
ENST00000515645.1:c.-120-62C= (MYOT)	ENSP00000426281.1:n.-120-62C=
NM_001135940.1:c.-197+290C= (MYOT)	NP_001129412.1:n.-197+290C=
NM_001300911.1:c.-120-62C= (MYOT)	NP_001287840.1:n.-120-62C=
NM_006790.2:c.164C= , LRG_201t1:c.164C= (MYOT)	NP_006781.1:p.Ser55=
XR_948815.1:n.220-11552G= (PKD2L2-DT)
XR_948816.1:n.58-11552G= (PKD2L2-DT)
XM_017010060.1:c.-355-62C= (MYOT)	XP_016865549.1:n.-355-62C=
XM_017010061.1:c.-417C= (MYOT)	XP_016865550.1:n.-417C=
XM_017010062.1:c.-225+290C= (MYOT)	XP_016865551.1:n.-225+290C=
XR_948815.2:n.347-11552G= (PKD2L2-DT)
NM_001135940.2:c.-197+290C= (MYOT)	NP_001129412.1:n.-197+290C=
NM_001300911.2:c.-120-62C= (MYOT)	NP_001287840.1:n.-120-62C=
NM_006790.3:c.164C= (MYOT) MANE Select	NP_006781.1:p.Ser55=