Canonical Allele Identifier: CA2584910766
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578269-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578269C>A , CM000681.2:g.38578269C>A GRCh38
NC_000019.9:g.39068909C>A , CM000681.1:g.39068909C>A GRCh37
NC_000019.8:g.43760749C>A NCBI36
NG_008866.1:g.149570C>A , LRG_766:g.149570C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+65C>A
ENST00000688602.1:c.2697+65C>A
ENST00000689936.1:c.2669+65C>A
ENST00000359596.8:c.14364+65C>A MANE Select ENSP00000352608.2:n.14364+65C>A
ENST00000355481.8:c.14349+65C>A ENSP00000347667.3:n.14349+65C>A
ENST00000359596.7:c.14364+65C>A ENSP00000352608.2:n.14364+65C>A
ENST00000360985.7:c.14346+65C>A ENSP00000354254.4:n.14346+65C>A
NM_000540.2:c.14364+65C>A , LRG_766t1:c.14364+65C>A NP_000531.2:n.14364+65C>A
NM_001042723.1:c.14349+65C>A NP_001036188.1:n.14349+65C>A
XM_006723317.1:c.14346+65C>A XP_006723380.1:n.14346+65C>A
XM_006723319.1:c.14331+65C>A XP_006723382.1:n.14331+65C>A
XM_011527204.1:c.14361+65C>A XP_011525506.1:n.14361+65C>A
XM_011527205.1:c.14277+65C>A XP_011525507.1:n.14277+65C>A
XM_006723317.2:c.14346+65C>A XP_006723380.1:n.14346+65C>A
XM_006723319.2:c.14331+65C>A XP_006723382.1:n.14331+65C>A
XM_011527205.2:c.14277+65C>A XP_011525507.1:n.14277+65C>A
NM_000540.3:c.14364+65C>A MANE Select NP_000531.2:n.14364+65C>A
NM_001042723.2:c.14349+65C>A NP_001036188.1:n.14349+65C>A
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