Canonical Allele Identifier: CA361053985

Gene: MYOT PKD2L2-DT

Linked Data

• ClinVar Variation Id: 464372
• ClinVar RCV Id: RCV000536530
• dbSNP Id: rs1554102961
• MyVariant Identifiers: chr5:g.137211552G>T (hg19) ; chr5:g.137875863G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137875863G>T , CM000667.2:g.137875863G>T	GRCh38
NC_000005.9:g.137211552G>T , CM000667.1:g.137211552G>T	GRCh37
NC_000005.8:g.137239451G>T	NCBI36
NG_008894.1:g.13008G>T , LRG_201:g.13008G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.391G>T (MYOT) MANE Select	ENSP00000239926.4:p.Ala131Ser
ENST00000239926.8:c.391G>T (MYOT)	ENSP00000239926.4:p.Ala131Ser
ENST00000421631.6:c.-162G>T (MYOT)	ENSP00000391185.2:n.-162G>T
ENST00000509812.5:n.214G>T (MYOT)
ENST00000511625.5:n.214G>T (MYOT)
ENST00000515645.1:c.46G>T (MYOT)	ENSP00000426281.1:p.Ala16Ser
NM_001135940.1:c.-162G>T (MYOT)	NP_001129412.1:n.-162G>T
NM_001300911.1:c.46G>T (MYOT)	NP_001287840.1:p.Ala16Ser
NM_006790.2:c.391G>T , LRG_201t1:c.391G>T (MYOT)	NP_006781.1:p.Ala131Ser
XR_948815.1:n.219+12297C>A (PKD2L2-DT)
XR_948816.1:n.57+13284C>A (PKD2L2-DT)
XM_017010060.1:c.-190G>T (MYOT)	XP_016865549.1:n.-190G>T
XM_017010061.1:c.-190G>T (MYOT)	XP_016865550.1:n.-190G>T
XM_017010062.1:c.-190G>T (MYOT)	XP_016865551.1:n.-190G>T
XR_948815.2:n.346+12297C>A (PKD2L2-DT)
NM_001135940.2:c.-162G>T (MYOT)	NP_001129412.1:n.-162G>T
NM_001300911.2:c.46G>T (MYOT)	NP_001287840.1:p.Ala16Ser
NM_006790.3:c.391G>T (MYOT) MANE Select	NP_006781.1:p.Ala131Ser