Canonical Allele Identifier: CA405682313
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39063883A>T (hg19) chr19:g.38573243A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573243A>T , CM000681.2:g.38573243A>T GRCh38
NC_000019.9:g.39063883A>T , CM000681.1:g.39063883A>T GRCh37
NC_000019.8:g.43755723A>T NCBI36
NG_008866.1:g.144544A>T , LRG_766:g.144544A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1001A>T
ENST00000688602.1:c.2398A>T
ENST00000689936.1:c.2370A>T
ENST00000359596.8:c.14065A>T MANE Select ENSP00000352608.2:p.Ile4689Phe
ENST00000355481.8:c.14050A>T ENSP00000347667.3:p.Ile4684Phe
ENST00000359596.7:c.14065A>T ENSP00000352608.2:p.Ile4689Phe
ENST00000360985.7:c.14047A>T ENSP00000354254.4:p.Ile4683Phe
NM_000540.2:c.14065A>T , LRG_766t1:c.14065A>T NP_000531.2:p.Ile4689Phe
NM_001042723.1:c.14050A>T NP_001036188.1:p.Ile4684Phe
XM_006723317.1:c.14047A>T XP_006723380.1:p.Ile4683Phe
XM_006723319.1:c.14032A>T XP_006723382.1:p.Ile4678Phe
XM_011527204.1:c.14062A>T XP_011525506.1:p.Ile4688Phe
XM_011527205.1:c.13978A>T XP_011525507.1:p.Ile4660Phe
XM_006723317.2:c.14047A>T XP_006723380.1:p.Ile4683Phe
XM_006723319.2:c.14032A>T XP_006723382.1:p.Ile4678Phe
XM_011527205.2:c.13978A>T XP_011525507.1:p.Ile4660Phe
NM_000540.3:c.14065A>T MANE Select NP_000531.2:p.Ile4689Phe
NM_001042723.2:c.14050A>T NP_001036188.1:p.Ile4684Phe
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