Canonical Allele Identifier: CA081136
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068584C>A (hg19) chr19:g.38577944C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577944C>A , CM000681.2:g.38577944C>A GRCh38
NC_000019.9:g.39068584C>A , CM000681.1:g.39068584C>A GRCh37
NC_000019.8:g.43760424C>A NCBI36
NG_008866.1:g.149245C>A , LRG_766:g.149245C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1135C>A
ENST00000688602.1:c.2532C>A
ENST00000689936.1:c.2504C>A
ENST00000359596.8:c.14199C>A MANE Select ENSP00000352608.2:p.Tyr4733Ter
ENST00000355481.8:c.14184C>A ENSP00000347667.3:p.Tyr4728Ter
ENST00000359596.7:c.14199C>A ENSP00000352608.2:p.Tyr4733Ter
ENST00000360985.7:c.14181C>A ENSP00000354254.4:p.Tyr4727Ter
NM_000540.2:c.14199C>A , LRG_766t1:c.14199C>A NP_000531.2:p.Tyr4733Ter
NM_001042723.1:c.14184C>A NP_001036188.1:p.Tyr4728Ter
XM_006723317.1:c.14181C>A XP_006723380.1:p.Tyr4727Ter
XM_006723319.1:c.14166C>A XP_006723382.1:p.Tyr4722Ter
XM_011527204.1:c.14196C>A XP_011525506.1:p.Tyr4732Ter
XM_011527205.1:c.14112C>A XP_011525507.1:p.Tyr4704Ter
XM_006723317.2:c.14181C>A XP_006723380.1:p.Tyr4727Ter
XM_006723319.2:c.14166C>A XP_006723382.1:p.Tyr4722Ter
XM_011527205.2:c.14112C>A XP_011525507.1:p.Tyr4704Ter
NM_000540.3:c.14199C>A MANE Select NP_000531.2:p.Tyr4733Ter
NM_001042723.2:c.14184C>A NP_001036188.1:p.Tyr4728Ter
Search 100 bp 5'
Search 100 bp 3'