Canonical Allele Identifier: CA3423179

Gene: MYOT PKD2L2-DT

Linked Data

• ClinVar Variation Id: 464366
• ClinVar RCV Id: RCV000553497 ; RCV003243182
• dbSNP Id: rs766650528
• ExAC: 5:137222922 C / G
• gnomAD v2: 5-137222922-C-G
• gnomAD v3: 5-137887233-C-G
• gnomAD v4: 5-137887233-C-G
• MyVariant Identifiers: chr5:g.137222922C>G (hg19) ; chr5:g.137887233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137887233C>G , CM000667.2:g.137887233C>G	GRCh38
NC_000005.9:g.137222922C>G , CM000667.1:g.137222922C>G	GRCh37
NC_000005.8:g.137250821C>G	NCBI36
NG_008894.1:g.24378C>G , LRG_201:g.24378C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.1345C>G (MYOT) MANE Select	ENSP00000239926.4:p.Pro449Ala
ENST00000239926.8:c.1345C>G (MYOT)	ENSP00000239926.4:p.Pro449Ala
ENST00000421631.6:c.793C>G (MYOT)	ENSP00000391185.2:p.Pro265Ala
ENST00000508938.1:n.319C>G (MYOT)
ENST00000515645.1:c.1000C>G (MYOT)	ENSP00000426281.1:p.Pro334Ala
NM_001135940.1:c.793C>G (MYOT)	NP_001129412.1:p.Pro265Ala
NM_001300911.1:c.1000C>G (MYOT)	NP_001287840.1:p.Pro334Ala
NM_006790.2:c.1345C>G , LRG_201t1:c.1345C>G (MYOT)	NP_006781.1:p.Pro449Ala
XR_948815.1:n.219+927G>C (PKD2L2-DT)
XR_948816.1:n.57+1914G>C (PKD2L2-DT)
XM_017010060.1:c.760C>G (MYOT)	XP_016865549.1:p.Pro254Ala
XM_017010061.1:c.760C>G (MYOT)	XP_016865550.1:p.Pro254Ala
XM_017010062.1:c.760C>G (MYOT)	XP_016865551.1:p.Pro254Ala
XR_948815.2:n.346+927G>C (PKD2L2-DT)
NM_001135940.2:c.793C>G (MYOT)	NP_001129412.1:p.Pro265Ala
NM_001300911.2:c.1000C>G (MYOT)	NP_001287840.1:p.Pro334Ala
NM_006790.3:c.1345C>G (MYOT) MANE Select	NP_006781.1:p.Pro449Ala