Canonical Allele Identifier: CA632875380
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1455306475
gnomAD v2: 19-39063993-G-A
gnomAD v4: 19-38573353-G-A
MyVariant Identifiers: chr19:g.39063993G>A (hg19) chr19:g.38573353G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573353G>A , CM000681.2:g.38573353G>A GRCh38
NC_000019.9:g.39063993G>A , CM000681.1:g.39063993G>A GRCh37
NC_000019.8:g.43755833G>A NCBI36
NG_008866.1:g.144654G>A , LRG_766:g.144654G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1065+46G>A
ENST00000688602.1:c.2462+46G>A
ENST00000689936.1:c.2434+46G>A
ENST00000359596.8:c.14129+46G>A MANE Select ENSP00000352608.2:n.14129+46G>A
ENST00000355481.8:c.14114+46G>A ENSP00000347667.3:n.14114+46G>A
ENST00000359596.7:c.14129+46G>A ENSP00000352608.2:n.14129+46G>A
ENST00000360985.7:c.14111+46G>A ENSP00000354254.4:n.14111+46G>A
NM_000540.2:c.14129+46G>A , LRG_766t1:c.14129+46G>A NP_000531.2:n.14129+46G>A
NM_001042723.1:c.14114+46G>A NP_001036188.1:n.14114+46G>A
XM_006723317.1:c.14111+46G>A XP_006723380.1:n.14111+46G>A
XM_006723319.1:c.14096+46G>A XP_006723382.1:n.14096+46G>A
XM_011527204.1:c.14126+46G>A XP_011525506.1:n.14126+46G>A
XM_011527205.1:c.14042+46G>A XP_011525507.1:n.14042+46G>A
XM_006723317.2:c.14111+46G>A XP_006723380.1:n.14111+46G>A
XM_006723319.2:c.14096+46G>A XP_006723382.1:n.14096+46G>A
XM_011527205.2:c.14042+46G>A XP_011525507.1:n.14042+46G>A
NM_000540.3:c.14129+46G>A MANE Select NP_000531.2:n.14129+46G>A
NM_001042723.2:c.14114+46G>A NP_001036188.1:n.14114+46G>A
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