Canonical Allele Identifier: CA3423004

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137880859A>T , CM000667.2:g.137880859A>T	GRCh38
NC_000005.9:g.137216548A>T , CM000667.1:g.137216548A>T	GRCh37
NC_000005.8:g.137244447A>T	NCBI36
NG_008894.1:g.18004A>T , LRG_201:g.18004A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006790.3:c.677A>T (MYOT) MANE Select	NP_006781.1:p.Gln226Leu
ENST00000239926.9:c.677A>T (MYOT) MANE Select	ENSP00000239926.4:p.Gln226Leu
NM_001135940.1:c.125A>T (MYOT)	NP_001129412.1:p.Gln42Leu
NM_001135940.2:c.125A>T (MYOT)	NP_001129412.1:p.Gln42Leu
NM_001300911.1:c.332A>T (MYOT)	NP_001287840.1:p.Gln111Leu
NM_001300911.2:c.332A>T (MYOT)	NP_001287840.1:p.Gln111Leu
NM_006790.2:c.677A>T , LRG_201t1:c.677A>T (MYOT)	NP_006781.1:p.Gln226Leu
ENST00000239926.8:c.677A>T (MYOT)	ENSP00000239926.4:p.Gln226Leu
ENST00000421631.6:c.125A>T (MYOT)	ENSP00000391185.2:p.Gln42Leu
ENST00000503748.1:n.242A>T (MYOT)
ENST00000509812.5:n.500A>T (MYOT)
ENST00000511254.1:n.245A>T (MYOT)
ENST00000515645.1:c.332A>T (MYOT)	ENSP00000426281.1:p.Gln111Leu
XM_017010060.1:c.97A>T (MYOT)	XP_016865549.1:p.Lys33Ter
XM_017010061.1:c.97A>T (MYOT)	XP_016865550.1:p.Lys33Ter
XM_017010062.1:c.97A>T (MYOT)	XP_016865551.1:p.Lys33Ter
XR_948815.1:n.219+7301T>A (PKD2L2-DT)
XR_948815.2:n.346+7301T>A (PKD2L2-DT)
XR_948816.1:n.57+8288T>A (PKD2L2-DT)