Canonical Allele Identifier: CA405685245
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578177-G-T
MyVariant Identifiers: chr19:g.39068817G>T (hg19) chr19:g.38578177G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578177G>T , CM000681.2:g.38578177G>T GRCh38
NC_000019.9:g.39068817G>T , CM000681.1:g.39068817G>T GRCh37
NC_000019.8:g.43760657G>T NCBI36
NG_008866.1:g.149478G>T , LRG_766:g.149478G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1273G>T
ENST00000688602.1:c.2670G>T
ENST00000689936.1:c.2642G>T
ENST00000359596.8:c.14337G>T MANE Select ENSP00000352608.2:p.Trp4779Cys
ENST00000355481.8:c.14322G>T ENSP00000347667.3:p.Trp4774Cys
ENST00000359596.7:c.14337G>T ENSP00000352608.2:p.Trp4779Cys
ENST00000360985.7:c.14319G>T ENSP00000354254.4:p.Trp4773Cys
NM_000540.2:c.14337G>T , LRG_766t1:c.14337G>T NP_000531.2:p.Trp4779Cys
NM_001042723.1:c.14322G>T NP_001036188.1:p.Trp4774Cys
XM_006723317.1:c.14319G>T XP_006723380.1:p.Trp4773Cys
XM_006723319.1:c.14304G>T XP_006723382.1:p.Trp4768Cys
XM_011527204.1:c.14334G>T XP_011525506.1:p.Trp4778Cys
XM_011527205.1:c.14250G>T XP_011525507.1:p.Trp4750Cys
XM_006723317.2:c.14319G>T XP_006723380.1:p.Trp4773Cys
XM_006723319.2:c.14304G>T XP_006723382.1:p.Trp4768Cys
XM_011527205.2:c.14250G>T XP_011525507.1:p.Trp4750Cys
NM_000540.3:c.14337G>T MANE Select NP_000531.2:p.Trp4779Cys
NM_001042723.2:c.14322G>T NP_001036188.1:p.Trp4774Cys
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