Canonical Allele Identifier: CA405662852
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39034456T>A (hg19) chr19:g.38543816T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543816T>A , CM000681.2:g.38543816T>A GRCh38
NC_000019.9:g.39034456T>A , CM000681.1:g.39034456T>A GRCh37
NC_000019.8:g.43726296T>A NCBI36
NG_008866.1:g.115117T>A , LRG_766:g.115117T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000688602.1:c.363T>A
ENST00000689936.1:c.345T>A
ENST00000359596.8:c.11953T>A MANE Select ENSP00000352608.2:p.Trp3985Arg
ENST00000355481.8:c.11938T>A ENSP00000347667.3:p.Trp3980Arg
ENST00000359596.7:c.11953T>A ENSP00000352608.2:p.Trp3985Arg
ENST00000360985.7:c.11935T>A ENSP00000354254.4:p.Trp3979Arg
ENST00000593322.1:c.562T>A
ENST00000594335.5:c.5322T>A
NM_000540.2:c.11953T>A , LRG_766t1:c.11953T>A NP_000531.2:p.Trp3985Arg
NM_001042723.1:c.11938T>A NP_001036188.1:p.Trp3980Arg
XM_006723317.1:c.11935T>A XP_006723380.1:p.Trp3979Arg
XM_006723319.1:c.11920T>A XP_006723382.1:p.Trp3974Arg
XM_011527204.1:c.11950T>A XP_011525506.1:p.Trp3984Arg
XM_011527205.1:c.11953T>A XP_011525507.1:p.Trp3985Arg
XM_006723317.2:c.11935T>A XP_006723380.1:p.Trp3979Arg
XM_006723319.2:c.11920T>A XP_006723382.1:p.Trp3974Arg
XM_011527205.2:c.11953T>A XP_011525507.1:p.Trp3985Arg
NM_000540.3:c.11953T>A MANE Select NP_000531.2:p.Trp3985Arg
NM_001042723.2:c.11938T>A NP_001036188.1:p.Trp3980Arg
Search 100 bp 5'
Search 100 bp 3'