Canonical Allele Identifier: CA361053543

Gene: MYOT PKD2L2-DT

Linked Data

• dbSNP Id: rs1366126343
• gnomAD v4: 5-137870936-C-A
• MyVariant Identifiers: chr5:g.137206625C>A (hg19) ; chr5:g.137870936C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870936C>A , CM000667.2:g.137870936C>A	GRCh38
NC_000005.9:g.137206625C>A , CM000667.1:g.137206625C>A	GRCh37
NC_000005.8:g.137234524C>A	NCBI36
NG_008894.1:g.8081C>A , LRG_201:g.8081C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000239926.9:c.285C>A (MYOT) MANE Select	ENSP00000239926.4:p.Ser95Arg
ENST00000239926.8:c.285C>A (MYOT)	ENSP00000239926.4:p.Ser95Arg
ENST00000421631.6:c.-197+411C>A (MYOT)	ENSP00000391185.2:n.-197+411C>A
ENST00000509812.5:n.179+411C>A (MYOT)
ENST00000511625.5:n.179+411C>A (MYOT)
ENST00000515645.1:c.-61C>A (MYOT)	ENSP00000426281.1:n.-61C>A
NM_001135940.1:c.-197+411C>A (MYOT)	NP_001129412.1:n.-197+411C>A
NM_001300911.1:c.-61C>A (MYOT)	NP_001287840.1:n.-61C>A
NM_006790.2:c.285C>A , LRG_201t1:c.285C>A (MYOT)	NP_006781.1:p.Ser95Arg
XR_948815.1:n.220-11673G>T (PKD2L2-DT)
XR_948816.1:n.58-11673G>T (PKD2L2-DT)
XM_017010060.1:c.-296C>A (MYOT)	XP_016865549.1:n.-296C>A
XM_017010061.1:c.-296C>A (MYOT)	XP_016865550.1:n.-296C>A
XM_017010062.1:c.-225+411C>A (MYOT)	XP_016865551.1:n.-225+411C>A
XR_948815.2:n.347-11673G>T (PKD2L2-DT)
NM_001135940.2:c.-197+411C>A (MYOT)	NP_001129412.1:n.-197+411C>A
NM_001300911.2:c.-61C>A (MYOT)	NP_001287840.1:n.-61C>A
NM_006790.3:c.285C>A (MYOT) MANE Select	NP_006781.1:p.Ser95Arg