Canonical Allele Identifier: CA2576827488
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578278-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578278T>G , CM000681.2:g.38578278T>G GRCh38
NC_000019.9:g.39068918T>G , CM000681.1:g.39068918T>G GRCh37
NC_000019.8:g.43760758T>G NCBI36
NG_008866.1:g.149579T>G , LRG_766:g.149579T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+74T>G
ENST00000688602.1:c.2697+74T>G
ENST00000689936.1:c.2669+74T>G
ENST00000359596.8:c.14364+74T>G MANE Select ENSP00000352608.2:n.14364+74T>G
ENST00000355481.8:c.14349+74T>G ENSP00000347667.3:n.14349+74T>G
ENST00000359596.7:c.14364+74T>G ENSP00000352608.2:n.14364+74T>G
ENST00000360985.7:c.14346+74T>G ENSP00000354254.4:n.14346+74T>G
NM_000540.2:c.14364+74T>G , LRG_766t1:c.14364+74T>G NP_000531.2:n.14364+74T>G
NM_001042723.1:c.14349+74T>G NP_001036188.1:n.14349+74T>G
XM_006723317.1:c.14346+74T>G XP_006723380.1:n.14346+74T>G
XM_006723319.1:c.14331+74T>G XP_006723382.1:n.14331+74T>G
XM_011527204.1:c.14361+74T>G XP_011525506.1:n.14361+74T>G
XM_011527205.1:c.14277+74T>G XP_011525507.1:n.14277+74T>G
XM_006723317.2:c.14346+74T>G XP_006723380.1:n.14346+74T>G
XM_006723319.2:c.14331+74T>G XP_006723382.1:n.14331+74T>G
XM_011527205.2:c.14277+74T>G XP_011525507.1:n.14277+74T>G
NM_000540.3:c.14364+74T>G MANE Select NP_000531.2:n.14364+74T>G
NM_001042723.2:c.14349+74T>G NP_001036188.1:n.14349+74T>G
Search 100 bp 5'
Search 100 bp 3'