Canonical Allele Identifier: CA308120071
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs866100002
COSMIC: COSM5855666
MyVariant Identifiers: chr19:g.39068576G>A (hg19) chr19:g.38577936G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577936G>A , CM000681.2:g.38577936G>A GRCh38
NC_000019.9:g.39068576G>A , CM000681.1:g.39068576G>A GRCh37
NC_000019.8:g.43760416G>A NCBI36
NG_008866.1:g.149237G>A , LRG_766:g.149237G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1127G>A
ENST00000688602.1:c.2524G>A
ENST00000689936.1:c.2496G>A
ENST00000359596.8:c.14191G>A MANE Select ENSP00000352608.2:p.Asp4731Asn
ENST00000355481.8:c.14176G>A ENSP00000347667.3:p.Asp4726Asn
ENST00000359596.7:c.14191G>A ENSP00000352608.2:p.Asp4731Asn
ENST00000360985.7:c.14173G>A ENSP00000354254.4:p.Asp4725Asn
NM_000540.2:c.14191G>A , LRG_766t1:c.14191G>A NP_000531.2:p.Asp4731Asn
NM_001042723.1:c.14176G>A NP_001036188.1:p.Asp4726Asn
XM_006723317.1:c.14173G>A XP_006723380.1:p.Asp4725Asn
XM_006723319.1:c.14158G>A XP_006723382.1:p.Asp4720Asn
XM_011527204.1:c.14188G>A XP_011525506.1:p.Asp4730Asn
XM_011527205.1:c.14104G>A XP_011525507.1:p.Asp4702Asn
XM_006723317.2:c.14173G>A XP_006723380.1:p.Asp4725Asn
XM_006723319.2:c.14158G>A XP_006723382.1:p.Asp4720Asn
XM_011527205.2:c.14104G>A XP_011525507.1:p.Asp4702Asn
NM_000540.3:c.14191G>A MANE Select NP_000531.2:p.Asp4731Asn
NM_001042723.2:c.14176G>A NP_001036188.1:p.Asp4726Asn
Search 100 bp 5'
Search 100 bp 3'