Canonical Allele Identifier: CA081155
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578032C>G , CM000681.2:g.38578032C>G GRCh38
NC_000019.9:g.39068672C>G , CM000681.1:g.39068672C>G GRCh37
NC_000019.8:g.43760512C>G NCBI36
NG_008866.1:g.149333C>G , LRG_766:g.149333C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1223C>G
ENST00000688602.1:c.2620C>G
ENST00000689936.1:c.2592C>G
ENST00000359596.8:c.14287C>G MANE Select ENSP00000352608.2:p.Pro4763Ala
ENST00000355481.8:c.14272C>G ENSP00000347667.3:p.Pro4758Ala
ENST00000359596.7:c.14287C>G ENSP00000352608.2:p.Pro4763Ala
ENST00000360985.7:c.14269C>G ENSP00000354254.4:p.Pro4757Ala
NM_000540.2:c.14287C>G , LRG_766t1:c.14287C>G NP_000531.2:p.Pro4763Ala
NM_001042723.1:c.14272C>G NP_001036188.1:p.Pro4758Ala
XM_006723317.1:c.14269C>G XP_006723380.1:p.Pro4757Ala
XM_006723319.1:c.14254C>G XP_006723382.1:p.Pro4752Ala
XM_011527204.1:c.14284C>G XP_011525506.1:p.Pro4762Ala
XM_011527205.1:c.14200C>G XP_011525507.1:p.Pro4734Ala
XM_006723317.2:c.14269C>G XP_006723380.1:p.Pro4757Ala
XM_006723319.2:c.14254C>G XP_006723382.1:p.Pro4752Ala
XM_011527205.2:c.14200C>G XP_011525507.1:p.Pro4734Ala
NM_000540.3:c.14287C>G MANE Select NP_000531.2:p.Pro4763Ala
NM_001042723.2:c.14272C>G NP_001036188.1:p.Pro4758Ala