Canonical Allele Identifier: CA405684391
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068601C>T (hg19) chr19:g.38577961C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577961C>T , CM000681.2:g.38577961C>T GRCh38
NC_000019.9:g.39068601C>T , CM000681.1:g.39068601C>T GRCh37
NC_000019.8:g.43760441C>T NCBI36
NG_008866.1:g.149262C>T , LRG_766:g.149262C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1152C>T
ENST00000688602.1:c.2549C>T
ENST00000689936.1:c.2521C>T
ENST00000359596.8:c.14216C>T MANE Select ENSP00000352608.2:p.Ala4739Val
ENST00000355481.8:c.14201C>T ENSP00000347667.3:p.Ala4734Val
ENST00000359596.7:c.14216C>T ENSP00000352608.2:p.Ala4739Val
ENST00000360985.7:c.14198C>T ENSP00000354254.4:p.Ala4733Val
NM_000540.2:c.14216C>T , LRG_766t1:c.14216C>T NP_000531.2:p.Ala4739Val
NM_001042723.1:c.14201C>T NP_001036188.1:p.Ala4734Val
XM_006723317.1:c.14198C>T XP_006723380.1:p.Ala4733Val
XM_006723319.1:c.14183C>T XP_006723382.1:p.Ala4728Val
XM_011527204.1:c.14213C>T XP_011525506.1:p.Ala4738Val
XM_011527205.1:c.14129C>T XP_011525507.1:p.Ala4710Val
XM_006723317.2:c.14198C>T XP_006723380.1:p.Ala4733Val
XM_006723319.2:c.14183C>T XP_006723382.1:p.Ala4728Val
XM_011527205.2:c.14129C>T XP_011525507.1:p.Ala4710Val
NM_000540.3:c.14216C>T MANE Select NP_000531.2:p.Ala4739Val
NM_001042723.2:c.14201C>T NP_001036188.1:p.Ala4734Val
Search 100 bp 5'
Search 100 bp 3'