Canonical Allele Identifier: CA632876654
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578127_38578128insCCCCC , CM000681.2:g.38578127_38578128insCCCCC GRCh38
NC_000019.9:g.39068767_39068768insCCCCC , CM000681.1:g.39068767_39068768insCCCCC GRCh37
NC_000019.8:g.43760607_43760608insCCCCC NCBI36
NG_008866.1:g.149428_149429insCCCCC , LRG_766:g.149428_149429insCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240-17_1240-16insCCCCC
ENST00000688602.1:c.2637-17_2637-16insCCCCC
ENST00000689936.1:c.2609-17_2609-16insCCCCC
ENST00000359596.8:c.14304-17_14304-16insCCCCC MANE Select ENSP00000352608.2:n.14304-17_14304-16insCCCCC
ENST00000355481.8:c.14289-17_14289-16insCCCCC ENSP00000347667.3:n.14289-17_14289-16insCCCCC
ENST00000359596.7:c.14304-17_14304-16insCCCCC ENSP00000352608.2:n.14304-17_14304-16insCCCCC
ENST00000360985.7:c.14286-17_14286-16insCCCCC ENSP00000354254.4:n.14286-17_14286-16insCCCCC
NM_000540.2:c.14304-17_14304-16insCCCCC , LRG_766t1:c.14304-17_14304-16insCCCCC NP_000531.2:n.14304-17_14304-16insCCCCC
NM_001042723.1:c.14289-17_14289-16insCCCCC NP_001036188.1:n.14289-17_14289-16insCCCCC
XM_006723317.1:c.14286-17_14286-16insCCCCC XP_006723380.1:n.14286-17_14286-16insCCCCC
XM_006723319.1:c.14271-17_14271-16insCCCCC XP_006723382.1:n.14271-17_14271-16insCCCCC
XM_011527204.1:c.14301-17_14301-16insCCCCC XP_011525506.1:n.14301-17_14301-16insCCCCC
XM_011527205.1:c.14217-17_14217-16insCCCCC XP_011525507.1:n.14217-17_14217-16insCCCCC
XM_006723317.2:c.14286-17_14286-16insCCCCC XP_006723380.1:n.14286-17_14286-16insCCCCC
XM_006723319.2:c.14271-17_14271-16insCCCCC XP_006723382.1:n.14271-17_14271-16insCCCCC
XM_011527205.2:c.14217-17_14217-16insCCCCC XP_011525507.1:n.14217-17_14217-16insCCCCC
NM_000540.3:c.14304-17_14304-16insCCCCC MANE Select NP_000531.2:n.14304-17_14304-16insCCCCC
NM_001042723.2:c.14289-17_14289-16insCCCCC NP_001036188.1:n.14289-17_14289-16insCCCCC