Canonical Allele Identifier: CA507245898
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578028-G-C
MyVariant Identifiers: chr19:g.39068668G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578028G>C , CM000681.2:g.38578028G>C GRCh38
NC_000019.9:g.39068668G>C , CM000681.1:g.39068668G>C GRCh37
NC_000019.8:g.43760508G>C NCBI36
NG_008866.1:g.149329G>C , LRG_766:g.149329G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1219G>C
ENST00000688602.1:c.2616G>C
ENST00000689936.1:c.2588G>C
ENST00000359596.8:c.14283G>C MANE Select ENSP00000352608.2:p.Pro4761=
ENST00000355481.8:c.14268G>C ENSP00000347667.3:p.Pro4756=
ENST00000359596.7:c.14283G>C ENSP00000352608.2:p.Pro4761=
ENST00000360985.7:c.14265G>C ENSP00000354254.4:p.Pro4755=
NM_000540.2:c.14283G>C , LRG_766t1:c.14283G>C NP_000531.2:p.Pro4761=
NM_001042723.1:c.14268G>C NP_001036188.1:p.Pro4756=
XM_006723317.1:c.14265G>C XP_006723380.1:p.Pro4755=
XM_006723319.1:c.14250G>C XP_006723382.1:p.Pro4750=
XM_011527204.1:c.14280G>C XP_011525506.1:p.Pro4760=
XM_011527205.1:c.14196G>C XP_011525507.1:p.Pro4732=
XM_006723317.2:c.14265G>C XP_006723380.1:p.Pro4755=
XM_006723319.2:c.14250G>C XP_006723382.1:p.Pro4750=
XM_011527205.2:c.14196G>C XP_011525507.1:p.Pro4732=
NM_000540.3:c.14283G>C MANE Select NP_000531.2:p.Pro4761=
NM_001042723.2:c.14268G>C NP_001036188.1:p.Pro4756=
Search 100 bp 5'
Search 100 bp 3'