Canonical Allele Identifier: CA507355813
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2882648
ClinVar RCV Id: RCV003757975
dbSNP Id: rs1244865294
MyVariant Identifiers: chr19:g.39056180C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565540C>T , CM000681.2:g.38565540C>T GRCh38
NC_000019.9:g.39056180C>T , CM000681.1:g.39056180C>T GRCh37
NC_000019.8:g.43748020C>T NCBI36
NG_008866.1:g.136841C>T , LRG_766:g.136841C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.142C>T
ENST00000688602.1:c.1616C>T
ENST00000689936.1:c.1598C>T
ENST00000359596.8:c.13206C>T MANE Select ENSP00000352608.2:p.Asp4402=
ENST00000355481.8:c.13191C>T ENSP00000347667.3:p.Asp4397=
ENST00000359596.7:c.13206C>T ENSP00000352608.2:p.Asp4402=
ENST00000360985.7:c.13188C>T ENSP00000354254.4:p.Asp4396=
NM_000540.2:c.13206C>T , LRG_766t1:c.13206C>T NP_000531.2:p.Asp4402=
NM_001042723.1:c.13191C>T NP_001036188.1:p.Asp4397=
XM_006723317.1:c.13188C>T XP_006723380.1:p.Asp4396=
XM_006723319.1:c.13173C>T XP_006723382.1:p.Asp4391=
XM_011527204.1:c.13203C>T XP_011525506.1:p.Asp4401=
XM_011527205.1:c.13206C>T XP_011525507.1:p.Asp4402=
XM_006723317.2:c.13188C>T XP_006723380.1:p.Asp4396=
XM_006723319.2:c.13173C>T XP_006723382.1:p.Asp4391=
XM_011527205.2:c.13206C>T XP_011525507.1:p.Asp4402=
NM_000540.3:c.13206C>T MANE Select NP_000531.2:p.Asp4402=
NM_001042723.2:c.13191C>T NP_001036188.1:p.Asp4397=