Canonical Allele Identifier: CA507245738
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38577941-C-T
MyVariant Identifiers: chr19:g.39068581C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577941C>T , CM000681.2:g.38577941C>T GRCh38
NC_000019.9:g.39068581C>T , CM000681.1:g.39068581C>T GRCh37
NC_000019.8:g.43760421C>T NCBI36
NG_008866.1:g.149242C>T , LRG_766:g.149242C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1132C>T
ENST00000688602.1:c.2529C>T
ENST00000689936.1:c.2501C>T
ENST00000359596.8:c.14196C>T MANE Select ENSP00000352608.2:p.Ile4732=
ENST00000355481.8:c.14181C>T ENSP00000347667.3:p.Ile4727=
ENST00000359596.7:c.14196C>T ENSP00000352608.2:p.Ile4732=
ENST00000360985.7:c.14178C>T ENSP00000354254.4:p.Ile4726=
NM_000540.2:c.14196C>T , LRG_766t1:c.14196C>T NP_000531.2:p.Ile4732=
NM_001042723.1:c.14181C>T NP_001036188.1:p.Ile4727=
XM_006723317.1:c.14178C>T XP_006723380.1:p.Ile4726=
XM_006723319.1:c.14163C>T XP_006723382.1:p.Ile4721=
XM_011527204.1:c.14193C>T XP_011525506.1:p.Ile4731=
XM_011527205.1:c.14109C>T XP_011525507.1:p.Ile4703=
XM_006723317.2:c.14178C>T XP_006723380.1:p.Ile4726=
XM_006723319.2:c.14163C>T XP_006723382.1:p.Ile4721=
XM_011527205.2:c.14109C>T XP_011525507.1:p.Ile4703=
NM_000540.3:c.14196C>T MANE Select NP_000531.2:p.Ile4732=
NM_001042723.2:c.14181C>T NP_001036188.1:p.Ile4727=
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