Canonical Allele Identifier: CA405684601
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068631T>A (hg19) chr19:g.38577991T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577991T>A , CM000681.2:g.38577991T>A GRCh38
NC_000019.9:g.39068631T>A , CM000681.1:g.39068631T>A GRCh37
NC_000019.8:g.43760471T>A NCBI36
NG_008866.1:g.149292T>A , LRG_766:g.149292T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1182T>A
ENST00000688602.1:c.2579T>A
ENST00000689936.1:c.2551T>A
ENST00000359596.8:c.14246T>A MANE Select ENSP00000352608.2:p.Leu4749Gln
ENST00000355481.8:c.14231T>A ENSP00000347667.3:p.Leu4744Gln
ENST00000359596.7:c.14246T>A ENSP00000352608.2:p.Leu4749Gln
ENST00000360985.7:c.14228T>A ENSP00000354254.4:p.Leu4743Gln
NM_000540.2:c.14246T>A , LRG_766t1:c.14246T>A NP_000531.2:p.Leu4749Gln
NM_001042723.1:c.14231T>A NP_001036188.1:p.Leu4744Gln
XM_006723317.1:c.14228T>A XP_006723380.1:p.Leu4743Gln
XM_006723319.1:c.14213T>A XP_006723382.1:p.Leu4738Gln
XM_011527204.1:c.14243T>A XP_011525506.1:p.Leu4748Gln
XM_011527205.1:c.14159T>A XP_011525507.1:p.Leu4720Gln
XM_006723317.2:c.14228T>A XP_006723380.1:p.Leu4743Gln
XM_006723319.2:c.14213T>A XP_006723382.1:p.Leu4738Gln
XM_011527205.2:c.14159T>A XP_011525507.1:p.Leu4720Gln
NM_000540.3:c.14246T>A MANE Select NP_000531.2:p.Leu4749Gln
NM_001042723.2:c.14231T>A NP_001036188.1:p.Leu4744Gln
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