Canonical Allele Identifier: CA060974
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2731221
ClinVar RCV Id: RCV003593203
dbSNP Id: rs769553766
ExAC: 19:39068551 T / C
gnomAD v2: 19-39068551-T-C
gnomAD v3: 19-38577911-T-C
gnomAD v4: 19-38577911-T-C
MyVariant Identifiers: chr19:g.39068551T>C (hg19) chr19:g.38577911T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577911T>C , CM000681.2:g.38577911T>C GRCh38
NC_000019.9:g.39068551T>C , CM000681.1:g.39068551T>C GRCh37
NC_000019.8:g.43760391T>C NCBI36
NG_008866.1:g.149212T>C , LRG_766:g.149212T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1109-7T>C
ENST00000688602.1:c.2506-7T>C
ENST00000689936.1:c.2478-7T>C
ENST00000359596.8:c.14173-7T>C MANE Select ENSP00000352608.2:n.14173-7T>C
ENST00000355481.8:c.14158-7T>C ENSP00000347667.3:n.14158-7T>C
ENST00000359596.7:c.14173-7T>C ENSP00000352608.2:n.14173-7T>C
ENST00000360985.7:c.14155-7T>C ENSP00000354254.4:n.14155-7T>C
NM_000540.2:c.14173-7T>C , LRG_766t1:c.14173-7T>C NP_000531.2:n.14173-7T>C
NM_001042723.1:c.14158-7T>C NP_001036188.1:n.14158-7T>C
XM_006723317.1:c.14155-7T>C XP_006723380.1:n.14155-7T>C
XM_006723319.1:c.14140-7T>C XP_006723382.1:n.14140-7T>C
XM_011527204.1:c.14170-7T>C XP_011525506.1:n.14170-7T>C
XM_011527205.1:c.14086-7T>C XP_011525507.1:n.14086-7T>C
XM_006723317.2:c.14155-7T>C XP_006723380.1:n.14155-7T>C
XM_006723319.2:c.14140-7T>C XP_006723382.1:n.14140-7T>C
XM_011527205.2:c.14086-7T>C XP_011525507.1:n.14086-7T>C
NM_000540.3:c.14173-7T>C MANE Select NP_000531.2:n.14173-7T>C
NM_001042723.2:c.14158-7T>C NP_001036188.1:n.14158-7T>C
Search 100 bp 5'
Search 100 bp 3'