Canonical Allele Identifier: CA361477832

Gene: MYOT PKD2L2-DT

Linked Data

• dbSNP Id: rs1755018833
• MyVariant Identifiers: chr5:g.137206384A>C (hg19) ; chr5:g.137870695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870695A>C , CM000667.2:g.137870695A>C	GRCh38
NC_000005.9:g.137206384A>C , CM000667.1:g.137206384A>C	GRCh37
NC_000005.8:g.137234283A>C	NCBI36
NG_008894.1:g.7840A>C , LRG_201:g.7840A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.44A>C (MYOT) MANE Select	ENSP00000239926.4:p.Asn15Thr
ENST00000239926.8:c.44A>C (MYOT)	ENSP00000239926.4:p.Asn15Thr
ENST00000421631.6:c.-197+170A>C (MYOT)	ENSP00000391185.2:n.-197+170A>C
ENST00000509812.5:n.179+170A>C (MYOT)
ENST00000511625.5:n.179+170A>C (MYOT)
ENST00000515645.1:c.-121+170A>C (MYOT)	ENSP00000426281.1:n.-121+170A>C
NM_001135940.1:c.-197+170A>C (MYOT)	NP_001129412.1:n.-197+170A>C
NM_001300911.1:c.-121+170A>C (MYOT)	NP_001287840.1:n.-121+170A>C
NM_006790.2:c.44A>C , LRG_201t1:c.44A>C (MYOT)	NP_006781.1:p.Asn15Thr
XR_948815.1:n.220-11432T>G (PKD2L2-DT)
XR_948816.1:n.58-11432T>G (PKD2L2-DT)
XM_017010060.1:c.-356+170A>C (MYOT)	XP_016865549.1:n.-356+170A>C
XM_017010061.1:c.-537A>C (MYOT)	XP_016865550.1:n.-537A>C
XM_017010062.1:c.-225+170A>C (MYOT)	XP_016865551.1:n.-225+170A>C
XR_948815.2:n.347-11432T>G (PKD2L2-DT)
NM_001135940.2:c.-197+170A>C (MYOT)	NP_001129412.1:n.-197+170A>C
NM_001300911.2:c.-121+170A>C (MYOT)	NP_001287840.1:n.-121+170A>C
NM_006790.3:c.44A>C (MYOT) MANE Select	NP_006781.1:p.Asn15Thr