Canonical Allele Identifier: CA231298

Gene: MYOT PKD2L2-DT

Linked Data

• ClinVar Variation Id: 129682
• ClinVar RCV Id: RCV000117696 ; RCV001854569
• dbSNP Id: rs587780396
• gnomAD v3: 5-137870773-T-C
• gnomAD v4: 5-137870773-T-C
• MyVariant Identifiers: chr5:g.137206462T>C (hg19) ; chr5:g.137870773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870773T>C , CM000667.2:g.137870773T>C	GRCh38
NC_000005.9:g.137206462T>C , CM000667.1:g.137206462T>C	GRCh37
NC_000005.8:g.137234361T>C	NCBI36
NG_008894.1:g.7918T>C , LRG_201:g.7918T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000239926.9:c.122T>C (MYOT) MANE Select	ENSP00000239926.4:p.Ile41Thr
ENST00000239926.8:c.122T>C (MYOT)	ENSP00000239926.4:p.Ile41Thr
ENST00000421631.6:c.-197+248T>C (MYOT)	ENSP00000391185.2:n.-197+248T>C
ENST00000509812.5:n.179+248T>C (MYOT)
ENST00000511625.5:n.179+248T>C (MYOT)
ENST00000515645.1:c.-120-104T>C (MYOT)	ENSP00000426281.1:n.-120-104T>C
NM_001135940.1:c.-197+248T>C (MYOT)	NP_001129412.1:n.-197+248T>C
NM_001300911.1:c.-120-104T>C (MYOT)	NP_001287840.1:n.-120-104T>C
NM_006790.2:c.122T>C , LRG_201t1:c.122T>C (MYOT)	NP_006781.1:p.Ile41Thr
XR_948815.1:n.220-11510A>G (PKD2L2-DT)
XR_948816.1:n.58-11510A>G (PKD2L2-DT)
XM_017010060.1:c.-355-104T>C (MYOT)	XP_016865549.1:n.-355-104T>C
XM_017010061.1:c.-459T>C (MYOT)	XP_016865550.1:n.-459T>C
XM_017010062.1:c.-225+248T>C (MYOT)	XP_016865551.1:n.-225+248T>C
XR_948815.2:n.347-11510A>G (PKD2L2-DT)
NM_001135940.2:c.-197+248T>C (MYOT)	NP_001129412.1:n.-197+248T>C
NM_001300911.2:c.-120-104T>C (MYOT)	NP_001287840.1:n.-120-104T>C
NM_006790.3:c.122T>C (MYOT) MANE Select	NP_006781.1:p.Ile41Thr