Canonical Allele Identifier: CA253620

Gene: MYOT PKD2L2-DT

Linked Data

• ClinVar Variation Id: 5836
• ClinVar RCV Id: RCV000006193 ; RCV000239643 ; RCV000725007
• dbSNP Id: rs121908458
• gnomAD v4: 5-137870830-C-G
• MyVariant Identifiers: chr5:g.137206519C>G (hg19) ; chr5:g.137870830C>G (hg38)
• PubMed: PMID:15111675 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870830C>G , CM000667.2:g.137870830C>G	GRCh38
NC_000005.9:g.137206519C>G , CM000667.1:g.137206519C>G	GRCh37
NC_000005.8:g.137234418C>G	NCBI36
NG_008894.1:g.7975C>G , LRG_201:g.7975C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.179C>G (MYOT) MANE Select	ENSP00000239926.4:p.Ser60Cys
ENST00000239926.8:c.179C>G (MYOT)	ENSP00000239926.4:p.Ser60Cys
ENST00000421631.6:c.-197+305C>G (MYOT)	ENSP00000391185.2:n.-197+305C>G
ENST00000509812.5:n.179+305C>G (MYOT)
ENST00000511625.5:n.179+305C>G (MYOT)
ENST00000515645.1:c.-120-47C>G (MYOT)	ENSP00000426281.1:n.-120-47C>G
NM_001135940.1:c.-197+305C>G (MYOT)	NP_001129412.1:n.-197+305C>G
NM_001300911.1:c.-120-47C>G (MYOT)	NP_001287840.1:n.-120-47C>G
NM_006790.2:c.179C>G , LRG_201t1:c.179C>G (MYOT)	NP_006781.1:p.Ser60Cys
XR_948815.1:n.220-11567G>C (PKD2L2-DT)
XR_948816.1:n.58-11567G>C (PKD2L2-DT)
XM_017010060.1:c.-355-47C>G (MYOT)	XP_016865549.1:n.-355-47C>G
XM_017010061.1:c.-402C>G (MYOT)	XP_016865550.1:n.-402C>G
XM_017010062.1:c.-225+305C>G (MYOT)	XP_016865551.1:n.-225+305C>G
XR_948815.2:n.347-11567G>C (PKD2L2-DT)
NM_001135940.2:c.-197+305C>G (MYOT)	NP_001129412.1:n.-197+305C>G
NM_001300911.2:c.-120-47C>G (MYOT)	NP_001287840.1:n.-120-47C>G
NM_006790.3:c.179C>G (MYOT) MANE Select	NP_006781.1:p.Ser60Cys