Canonical Allele Identifier: CA2675428613

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137887006T>A , CM000667.2:g.137887006T>A	GRCh38
NC_000005.9:g.137222695T>A , CM000667.1:g.137222695T>A	GRCh37
NC_000005.8:g.137250594T>A	NCBI36
NG_008894.1:g.24151T>A , LRG_201:g.24151T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006790.3:c.1324+9T>A (MYOT) MANE Select	NP_006781.1:n.1324+9T>A
ENST00000239926.9:c.1324+9T>A (MYOT) MANE Select	ENSP00000239926.4:n.1324+9T>A
NM_001135940.1:c.772+9T>A (MYOT)	NP_001129412.1:n.772+9T>A
NM_001135940.2:c.772+9T>A (MYOT)	NP_001129412.1:n.772+9T>A
NM_001300911.1:c.979+9T>A (MYOT)	NP_001287840.1:n.979+9T>A
NM_001300911.2:c.979+9T>A (MYOT)	NP_001287840.1:n.979+9T>A
NM_006790.2:c.1324+9T>A , LRG_201t1:c.1324+9T>A (MYOT)	NP_006781.1:n.1324+9T>A
ENST00000239926.8:c.1324+9T>A (MYOT)	ENSP00000239926.4:n.1324+9T>A
ENST00000421631.6:c.772+9T>A (MYOT)	ENSP00000391185.2:n.772+9T>A
ENST00000508938.1:n.298+9T>A (MYOT)
ENST00000515645.1:c.979+9T>A (MYOT)	ENSP00000426281.1:n.979+9T>A
XM_017010060.1:c.739+9T>A (MYOT)	XP_016865549.1:n.739+9T>A
XM_017010061.1:c.739+9T>A (MYOT)	XP_016865550.1:n.739+9T>A
XM_017010062.1:c.739+9T>A (MYOT)	XP_016865551.1:n.739+9T>A
XR_948815.1:n.219+1154A>T (PKD2L2-DT)
XR_948815.2:n.346+1154A>T (PKD2L2-DT)
XR_948816.1:n.57+2141A>T (PKD2L2-DT)