Canonical Allele Identifier: CA308121905
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs922928512

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580365C>T , CM000681.2:g.38580365C>T GRCh38
NC_000019.9:g.39071005C>T , CM000681.1:g.39071005C>T GRCh37
NC_000019.8:g.43762845C>T NCBI36
NG_008866.1:g.151666C>T , LRG_766:g.151666C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1448-5C>T
ENST00000688602.1:c.2845-5C>T
ENST00000689936.1:c.2817-5C>T
ENST00000359596.8:c.14512-5C>T MANE Select ENSP00000352608.2:n.14512-5C>T
ENST00000355481.8:c.14497-5C>T ENSP00000347667.3:n.14497-5C>T
ENST00000359596.7:c.14512-5C>T ENSP00000352608.2:n.14512-5C>T
ENST00000360985.7:c.14494-5C>T ENSP00000354254.4:n.14494-5C>T
NM_000540.2:c.14512-5C>T , LRG_766t1:c.14512-5C>T NP_000531.2:n.14512-5C>T
NM_001042723.1:c.14497-5C>T NP_001036188.1:n.14497-5C>T
XM_006723317.1:c.14494-5C>T XP_006723380.1:n.14494-5C>T
XM_006723319.1:c.14479-5C>T XP_006723382.1:n.14479-5C>T
XM_011527204.1:c.14509-5C>T XP_011525506.1:n.14509-5C>T
XM_011527205.1:c.14425-5C>T XP_011525507.1:n.14425-5C>T
XM_006723317.2:c.14494-5C>T XP_006723380.1:n.14494-5C>T
XM_006723319.2:c.14479-5C>T XP_006723382.1:n.14479-5C>T
XM_011527205.2:c.14425-5C>T XP_011525507.1:n.14425-5C>T
NM_000540.3:c.14512-5C>T MANE Select NP_000531.2:n.14512-5C>T
NM_001042723.2:c.14497-5C>T NP_001036188.1:n.14497-5C>T