Canonical Allele Identifier: CA405684689
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578008A>C , CM000681.2:g.38578008A>C GRCh38
NC_000019.9:g.39068648A>C , CM000681.1:g.39068648A>C GRCh37
NC_000019.8:g.43760488A>C NCBI36
NG_008866.1:g.149309A>C , LRG_766:g.149309A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1199A>C
ENST00000688602.1:c.2596A>C
ENST00000689936.1:c.2568A>C
ENST00000359596.8:c.14263A>C MANE Select ENSP00000352608.2:p.Asn4755His
ENST00000355481.8:c.14248A>C ENSP00000347667.3:p.Asn4750His
ENST00000359596.7:c.14263A>C ENSP00000352608.2:p.Asn4755His
ENST00000360985.7:c.14245A>C ENSP00000354254.4:p.Asn4749His
NM_000540.2:c.14263A>C , LRG_766t1:c.14263A>C NP_000531.2:p.Asn4755His
NM_001042723.1:c.14248A>C NP_001036188.1:p.Asn4750His
XM_006723317.1:c.14245A>C XP_006723380.1:p.Asn4749His
XM_006723319.1:c.14230A>C XP_006723382.1:p.Asn4744His
XM_011527204.1:c.14260A>C XP_011525506.1:p.Asn4754His
XM_011527205.1:c.14176A>C XP_011525507.1:p.Asn4726His
XM_006723317.2:c.14245A>C XP_006723380.1:p.Asn4749His
XM_006723319.2:c.14230A>C XP_006723382.1:p.Asn4744His
XM_011527205.2:c.14176A>C XP_011525507.1:p.Asn4726His
NM_000540.3:c.14263A>C MANE Select NP_000531.2:p.Asn4755His
NM_001042723.2:c.14248A>C NP_001036188.1:p.Asn4750His