Canonical Allele Identifier: CA1585606875

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870727C= , CM000667.2:g.137870727C=	GRCh38
NC_000005.9:g.137206416C= , CM000667.1:g.137206416C=	GRCh37
NC_000005.8:g.137234315C=	NCBI36
NG_008894.1:g.7872C= , LRG_201:g.7872C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.76C= (MYOT) MANE Select	ENSP00000239926.4:p.Pro26=
ENST00000239926.8:c.76C= (MYOT)	ENSP00000239926.4:p.Pro26=
ENST00000421631.6:c.-197+202C= (MYOT)	ENSP00000391185.2:n.-197+202C=
ENST00000509812.5:n.179+202C= (MYOT)
ENST00000511625.5:n.179+202C= (MYOT)
ENST00000515645.1:c.-120-150C= (MYOT)	ENSP00000426281.1:n.-120-150C=
NM_001135940.1:c.-197+202C= (MYOT)	NP_001129412.1:n.-197+202C=
NM_001300911.1:c.-120-150C= (MYOT)	NP_001287840.1:n.-120-150C=
NM_006790.2:c.76C= , LRG_201t1:c.76C= (MYOT)	NP_006781.1:p.Pro26=
XR_948815.1:n.220-11464G= (PKD2L2-DT)
XR_948816.1:n.58-11464G= (PKD2L2-DT)
XM_017010060.1:c.-355-150C= (MYOT)	XP_016865549.1:n.-355-150C=
XM_017010061.1:c.-505C= (MYOT)	XP_016865550.1:n.-505C=
XM_017010062.1:c.-225+202C= (MYOT)	XP_016865551.1:n.-225+202C=
XR_948815.2:n.347-11464G= (PKD2L2-DT)
NM_001135940.2:c.-197+202C= (MYOT)	NP_001129412.1:n.-197+202C=
NM_001300911.2:c.-120-150C= (MYOT)	NP_001287840.1:n.-120-150C=
NM_006790.3:c.76C= (MYOT) MANE Select	NP_006781.1:p.Pro26=