Canonical Allele Identifier: CA308093012
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1010048497
MyVariant Identifiers: chr19:g.38976355A>T (hg19) chr19:g.38485715A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485715A>T , CM000681.2:g.38485715A>T GRCh38
NC_000019.9:g.38976355A>T , CM000681.1:g.38976355A>T GRCh37
NC_000019.8:g.43668195A>T NCBI36
NG_008866.1:g.57016A>T , LRG_766:g.57016A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5060A>T ENSP00000471601.2:p.His1687Leu
ENST00000359596.8:c.5060A>T MANE Select ENSP00000352608.2:p.His1687Leu
ENST00000355481.8:c.5060A>T ENSP00000347667.3:p.His1687Leu
ENST00000359596.7:c.5060A>T ENSP00000352608.2:p.His1687Leu
ENST00000360985.7:c.5057A>T ENSP00000354254.4:p.His1686Leu
NM_000540.2:c.5060A>T , LRG_766t1:c.5060A>T NP_000531.2:p.His1687Leu
NM_001042723.1:c.5060A>T NP_001036188.1:p.His1687Leu
XM_006723317.1:c.5060A>T XP_006723380.1:p.His1687Leu
XM_006723319.1:c.5060A>T XP_006723382.1:p.His1687Leu
XM_011527204.1:c.5057A>T XP_011525506.1:p.His1686Leu
XM_011527205.1:c.5060A>T XP_011525507.1:p.His1687Leu
XM_006723317.2:c.5060A>T XP_006723380.1:p.His1687Leu
XM_006723319.2:c.5060A>T XP_006723382.1:p.His1687Leu
XM_011527205.2:c.5060A>T XP_011525507.1:p.His1687Leu
XR_001753735.1:n.5143A>T
NM_000540.3:c.5060A>T MANE Select NP_000531.2:p.His1687Leu
NM_001042723.2:c.5060A>T NP_001036188.1:p.His1687Leu
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