Canonical Allele Identifier: CA2584900729
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38502776-G-GCA
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502776_38502777insCA , CM000681.2:g.38502776_38502777insCA GRCh38
NC_000019.9:g.38993416_38993417insCA , CM000681.1:g.38993416_38993417insCA GRCh37
NC_000019.8:g.43685256_43685257insCA NCBI36
NG_008866.1:g.74077_74078insCA , LRG_766:g.74077_74078insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+49_7835+50insCA ENSP00000471601.2:n.7835+49_7835+50insCA
ENST00000359596.8:c.7835+49_7835+50insCA MANE Select ENSP00000352608.2:n.7835+49_7835+50insCA
ENST00000355481.8:c.7835+49_7835+50insCA ENSP00000347667.3:n.7835+49_7835+50insCA
ENST00000359596.7:c.7835+49_7835+50insCA ENSP00000352608.2:n.7835+49_7835+50insCA
ENST00000360985.7:c.7832+49_7832+50insCA ENSP00000354254.4:n.7832+49_7832+50insCA
ENST00000594335.5:c.1287+49_1287+50insCA
NM_000540.2:c.7835+49_7835+50insCA , LRG_766t1:c.7835+49_7835+50insCA NP_000531.2:n.7835+49_7835+50insCA
NM_001042723.1:c.7835+49_7835+50insCA NP_001036188.1:n.7835+49_7835+50insCA
XM_006723317.1:c.7835+49_7835+50insCA XP_006723380.1:n.7835+49_7835+50insCA
XM_006723319.1:c.7835+49_7835+50insCA XP_006723382.1:n.7835+49_7835+50insCA
XM_011527204.1:c.7832+49_7832+50insCA XP_011525506.1:n.7832+49_7832+50insCA
XM_011527205.1:c.7835+49_7835+50insCA XP_011525507.1:n.7835+49_7835+50insCA
XM_006723317.2:c.7835+49_7835+50insCA XP_006723380.1:n.7835+49_7835+50insCA
XM_006723319.2:c.7835+49_7835+50insCA XP_006723382.1:n.7835+49_7835+50insCA
XM_011527205.2:c.7835+49_7835+50insCA XP_011525507.1:n.7835+49_7835+50insCA
XR_001753735.1:n.7918+49_7918+50insCA
NM_000540.3:c.7835+49_7835+50insCA MANE Select NP_000531.2:n.7835+49_7835+50insCA
NM_001042723.2:c.7835+49_7835+50insCA NP_001036188.1:n.7835+49_7835+50insCA
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