Canonical Allele Identifier: CA1585606847

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870653T= , CM000667.2:g.137870653T=	GRCh38
NC_000005.9:g.137206342T= , CM000667.1:g.137206342T=	GRCh37
NC_000005.8:g.137234241T=	NCBI36
NG_008894.1:g.7798T= , LRG_201:g.7798T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.2T= (MYOT) MANE Select	ENSP00000239926.4:p.Met1=
ENST00000239926.8:c.2T= (MYOT)	ENSP00000239926.4:p.Met1=
ENST00000421631.6:c.-197+128T= (MYOT)	ENSP00000391185.2:n.-197+128T=
ENST00000509812.5:n.179+128T= (MYOT)
ENST00000511625.5:n.179+128T= (MYOT)
ENST00000515645.1:c.-121+128T= (MYOT)	ENSP00000426281.1:n.-121+128T=
NM_001135940.1:c.-197+128T= (MYOT)	NP_001129412.1:n.-197+128T=
NM_001300911.1:c.-121+128T= (MYOT)	NP_001287840.1:n.-121+128T=
NM_006790.2:c.2T= , LRG_201t1:c.2T= (MYOT)	NP_006781.1:p.Met1=
XR_948815.1:n.220-11390A= (PKD2L2-DT)
XR_948816.1:n.58-11390A= (PKD2L2-DT)
XM_017010060.1:c.-356+128T= (MYOT)	XP_016865549.1:n.-356+128T=
XM_017010062.1:c.-225+128T= (MYOT)	XP_016865551.1:n.-225+128T=
XR_948815.2:n.347-11390A= (PKD2L2-DT)
NM_001135940.2:c.-197+128T= (MYOT)	NP_001129412.1:n.-197+128T=
NM_001300911.2:c.-121+128T= (MYOT)	NP_001287840.1:n.-121+128T=
NM_006790.3:c.2T= (MYOT) MANE Select	NP_006781.1:p.Met1=