Canonical Allele Identifier: CA361477922

Gene: MYOT PKD2L2-DT

Linked Data

• MyVariant Identifiers: chr5:g.137206428A>T (hg19) ; chr5:g.137870739A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870739A>T , CM000667.2:g.137870739A>T	GRCh38
NC_000005.9:g.137206428A>T , CM000667.1:g.137206428A>T	GRCh37
NC_000005.8:g.137234327A>T	NCBI36
NG_008894.1:g.7884A>T , LRG_201:g.7884A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.88A>T (MYOT) MANE Select	ENSP00000239926.4:p.Ser30Cys
ENST00000239926.8:c.88A>T (MYOT)	ENSP00000239926.4:p.Ser30Cys
ENST00000421631.6:c.-197+214A>T (MYOT)	ENSP00000391185.2:n.-197+214A>T
ENST00000509812.5:n.179+214A>T (MYOT)
ENST00000511625.5:n.179+214A>T (MYOT)
ENST00000515645.1:c.-120-138A>T (MYOT)	ENSP00000426281.1:n.-120-138A>T
NM_001135940.1:c.-197+214A>T (MYOT)	NP_001129412.1:n.-197+214A>T
NM_001300911.1:c.-120-138A>T (MYOT)	NP_001287840.1:n.-120-138A>T
NM_006790.2:c.88A>T , LRG_201t1:c.88A>T (MYOT)	NP_006781.1:p.Ser30Cys
XR_948815.1:n.220-11476T>A (PKD2L2-DT)
XR_948816.1:n.58-11476T>A (PKD2L2-DT)
XM_017010060.1:c.-355-138A>T (MYOT)	XP_016865549.1:n.-355-138A>T
XM_017010061.1:c.-493A>T (MYOT)	XP_016865550.1:n.-493A>T
XM_017010062.1:c.-225+214A>T (MYOT)	XP_016865551.1:n.-225+214A>T
XR_948815.2:n.347-11476T>A (PKD2L2-DT)
NM_001135940.2:c.-197+214A>T (MYOT)	NP_001129412.1:n.-197+214A>T
NM_001300911.2:c.-120-138A>T (MYOT)	NP_001287840.1:n.-120-138A>T
NM_006790.3:c.88A>T (MYOT) MANE Select	NP_006781.1:p.Ser30Cys