Canonical Allele Identifier: CA632876356
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074344
ClinVar RCV Id: RCV004012886
dbSNP Id: rs1489982322
gnomAD v2: 19-39068555-C-A
gnomAD v4: 19-38577915-C-A
MyVariant Identifiers: chr19:g.39068555C>A (hg19) chr19:g.38577915C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577915C>A , CM000681.2:g.38577915C>A GRCh38
NC_000019.9:g.39068555C>A , CM000681.1:g.39068555C>A GRCh37
NC_000019.8:g.43760395C>A NCBI36
NG_008866.1:g.149216C>A , LRG_766:g.149216C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1109-3C>A
ENST00000688602.1:c.2506-3C>A
ENST00000689936.1:c.2478-3C>A
ENST00000359596.8:c.14173-3C>A MANE Select ENSP00000352608.2:n.14173-3C>A
ENST00000355481.8:c.14158-3C>A ENSP00000347667.3:n.14158-3C>A
ENST00000359596.7:c.14173-3C>A ENSP00000352608.2:n.14173-3C>A
ENST00000360985.7:c.14155-3C>A ENSP00000354254.4:n.14155-3C>A
NM_000540.2:c.14173-3C>A , LRG_766t1:c.14173-3C>A NP_000531.2:n.14173-3C>A
NM_001042723.1:c.14158-3C>A NP_001036188.1:n.14158-3C>A
XM_006723317.1:c.14155-3C>A XP_006723380.1:n.14155-3C>A
XM_006723319.1:c.14140-3C>A XP_006723382.1:n.14140-3C>A
XM_011527204.1:c.14170-3C>A XP_011525506.1:n.14170-3C>A
XM_011527205.1:c.14086-3C>A XP_011525507.1:n.14086-3C>A
XM_006723317.2:c.14155-3C>A XP_006723380.1:n.14155-3C>A
XM_006723319.2:c.14140-3C>A XP_006723382.1:n.14140-3C>A
XM_011527205.2:c.14086-3C>A XP_011525507.1:n.14086-3C>A
NM_000540.3:c.14173-3C>A MANE Select NP_000531.2:n.14173-3C>A
NM_001042723.2:c.14158-3C>A NP_001036188.1:n.14158-3C>A
Search 100 bp 5'
Search 100 bp 3'