Canonical Allele Identifier: CA507245931
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068814C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578174C>A , CM000681.2:g.38578174C>A GRCh38
NC_000019.9:g.39068814C>A , CM000681.1:g.39068814C>A GRCh37
NC_000019.8:g.43760654C>A NCBI36
NG_008866.1:g.149475C>A , LRG_766:g.149475C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1270C>A
ENST00000688602.1:c.2667C>A
ENST00000689936.1:c.2639C>A
ENST00000359596.8:c.14334C>A MANE Select ENSP00000352608.2:p.Ile4778=
ENST00000355481.8:c.14319C>A ENSP00000347667.3:p.Ile4773=
ENST00000359596.7:c.14334C>A ENSP00000352608.2:p.Ile4778=
ENST00000360985.7:c.14316C>A ENSP00000354254.4:p.Ile4772=
NM_000540.2:c.14334C>A , LRG_766t1:c.14334C>A NP_000531.2:p.Ile4778=
NM_001042723.1:c.14319C>A NP_001036188.1:p.Ile4773=
XM_006723317.1:c.14316C>A XP_006723380.1:p.Ile4772=
XM_006723319.1:c.14301C>A XP_006723382.1:p.Ile4767=
XM_011527204.1:c.14331C>A XP_011525506.1:p.Ile4777=
XM_011527205.1:c.14247C>A XP_011525507.1:p.Ile4749=
XM_006723317.2:c.14316C>A XP_006723380.1:p.Ile4772=
XM_006723319.2:c.14301C>A XP_006723382.1:p.Ile4767=
XM_011527205.2:c.14247C>A XP_011525507.1:p.Ile4749=
NM_000540.3:c.14334C>A MANE Select NP_000531.2:p.Ile4778=
NM_001042723.2:c.14319C>A NP_001036188.1:p.Ile4773=