Canonical Allele Identifier: CA361054994

Gene: MYOT PKD2L2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137881974A>G , CM000667.2:g.137881974A>G	GRCh38
NC_000005.9:g.137217663A>G , CM000667.1:g.137217663A>G	GRCh37
NC_000005.8:g.137245562A>G	NCBI36
NG_008894.1:g.19119A>G , LRG_201:g.19119A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006790.3:c.685A>G (MYOT) MANE Select	NP_006781.1:p.Ser229Gly
ENST00000239926.9:c.685A>G (MYOT) MANE Select	ENSP00000239926.4:p.Ser229Gly
NM_001135940.1:c.133A>G (MYOT)	NP_001129412.1:p.Ser45Gly
NM_001135940.2:c.133A>G (MYOT)	NP_001129412.1:p.Ser45Gly
NM_001300911.1:c.340A>G (MYOT)	NP_001287840.1:p.Ser114Gly
NM_001300911.2:c.340A>G (MYOT)	NP_001287840.1:p.Ser114Gly
NM_006790.2:c.685A>G , LRG_201t1:c.685A>G (MYOT)	NP_006781.1:p.Ser229Gly
ENST00000239926.8:c.685A>G (MYOT)	ENSP00000239926.4:p.Ser229Gly
ENST00000421631.6:c.133A>G (MYOT)	ENSP00000391185.2:p.Ser45Gly
ENST00000503748.1:n.250A>G (MYOT)
ENST00000509812.5:n.506+1109A>G (MYOT)
ENST00000511254.1:n.251+1109A>G (MYOT)
ENST00000515645.1:c.340A>G (MYOT)	ENSP00000426281.1:p.Ser114Gly
XM_017010060.1:c.100A>G (MYOT)	XP_016865549.1:p.Ser34Gly
XM_017010061.1:c.100A>G (MYOT)	XP_016865550.1:p.Ser34Gly
XM_017010062.1:c.100A>G (MYOT)	XP_016865551.1:p.Ser34Gly
XR_948815.1:n.219+6186T>C (PKD2L2-DT)
XR_948815.2:n.346+6186T>C (PKD2L2-DT)
XR_948816.1:n.57+7173T>C (PKD2L2-DT)