Canonical Allele Identifier: CA405684694
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1391974480
gnomAD v2: 19-39068648-A-G
MyVariant Identifiers: chr19:g.39068648A>G (hg19) chr19:g.38578008A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578008A>G , CM000681.2:g.38578008A>G GRCh38
NC_000019.9:g.39068648A>G , CM000681.1:g.39068648A>G GRCh37
NC_000019.8:g.43760488A>G NCBI36
NG_008866.1:g.149309A>G , LRG_766:g.149309A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1199A>G
ENST00000688602.1:c.2596A>G
ENST00000689936.1:c.2568A>G
ENST00000359596.8:c.14263A>G MANE Select ENSP00000352608.2:p.Asn4755Asp
ENST00000355481.8:c.14248A>G ENSP00000347667.3:p.Asn4750Asp
ENST00000359596.7:c.14263A>G ENSP00000352608.2:p.Asn4755Asp
ENST00000360985.7:c.14245A>G ENSP00000354254.4:p.Asn4749Asp
NM_000540.2:c.14263A>G , LRG_766t1:c.14263A>G NP_000531.2:p.Asn4755Asp
NM_001042723.1:c.14248A>G NP_001036188.1:p.Asn4750Asp
XM_006723317.1:c.14245A>G XP_006723380.1:p.Asn4749Asp
XM_006723319.1:c.14230A>G XP_006723382.1:p.Asn4744Asp
XM_011527204.1:c.14260A>G XP_011525506.1:p.Asn4754Asp
XM_011527205.1:c.14176A>G XP_011525507.1:p.Asn4726Asp
XM_006723317.2:c.14245A>G XP_006723380.1:p.Asn4749Asp
XM_006723319.2:c.14230A>G XP_006723382.1:p.Asn4744Asp
XM_011527205.2:c.14176A>G XP_011525507.1:p.Asn4726Asp
NM_000540.3:c.14263A>G MANE Select NP_000531.2:p.Asn4755Asp
NM_001042723.2:c.14248A>G NP_001036188.1:p.Asn4750Asp
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