Canonical Allele Identifier: CA2584894077
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38455430-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455430T>G , CM000681.2:g.38455430T>G GRCh38
NC_000019.9:g.38946070T>G , CM000681.1:g.38946070T>G GRCh37
NC_000019.8:g.43637910T>G NCBI36
NG_008866.1:g.26731T>G , LRG_766:g.26731T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1577-21T>G ENSP00000471601.2:n.1577-21T>G
ENST00000359596.8:c.1577-21T>G MANE Select ENSP00000352608.2:n.1577-21T>G
ENST00000355481.8:c.1577-21T>G ENSP00000347667.3:n.1577-21T>G
ENST00000359596.7:c.1577-21T>G ENSP00000352608.2:n.1577-21T>G
ENST00000360985.7:c.1577-21T>G ENSP00000354254.4:n.1577-21T>G
NM_000540.2:c.1577-21T>G , LRG_766t1:c.1577-21T>G NP_000531.2:n.1577-21T>G
NM_001042723.1:c.1577-21T>G NP_001036188.1:n.1577-21T>G
XM_006723317.1:c.1577-21T>G XP_006723380.1:n.1577-21T>G
XM_006723319.1:c.1577-21T>G XP_006723382.1:n.1577-21T>G
XM_011527204.1:c.1574-21T>G XP_011525506.1:n.1574-21T>G
XM_011527205.1:c.1577-21T>G XP_011525507.1:n.1577-21T>G
XM_006723317.2:c.1577-21T>G XP_006723380.1:n.1577-21T>G
XM_006723319.2:c.1577-21T>G XP_006723382.1:n.1577-21T>G
XM_011527205.2:c.1577-21T>G XP_011525507.1:n.1577-21T>G
XR_001753735.1:n.1660-21T>G
NM_000540.3:c.1577-21T>G MANE Select NP_000531.2:n.1577-21T>G
NM_001042723.2:c.1577-21T>G NP_001036188.1:n.1577-21T>G
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