Canonical Allele Identifier: CA2335091324
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578020C= , CM000681.2:g.38578020C= GRCh38
NC_000019.9:g.39068660C= , CM000681.1:g.39068660C= GRCh37
NC_000019.8:g.43760500C= NCBI36
NG_008866.1:g.149321C= , LRG_766:g.149321C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1211C=
ENST00000688602.1:c.2608C=
ENST00000689936.1:c.2580C=
ENST00000359596.8:c.14275C= MANE Select ENSP00000352608.2:p.Pro4759=
ENST00000355481.8:c.14260C= ENSP00000347667.3:p.Pro4754=
ENST00000359596.7:c.14275C= ENSP00000352608.2:p.Pro4759=
ENST00000360985.7:c.14257C= ENSP00000354254.4:p.Pro4753=
NM_000540.2:c.14275C= , LRG_766t1:c.14275C= NP_000531.2:p.Pro4759=
NM_001042723.1:c.14260C= NP_001036188.1:p.Pro4754=
XM_006723317.1:c.14257C= XP_006723380.1:p.Pro4753=
XM_006723319.1:c.14242C= XP_006723382.1:p.Pro4748=
XM_011527204.1:c.14272C= XP_011525506.1:p.Pro4758=
XM_011527205.1:c.14188C= XP_011525507.1:p.Pro4730=
XM_006723317.2:c.14257C= XP_006723380.1:p.Pro4753=
XM_006723319.2:c.14242C= XP_006723382.1:p.Pro4748=
XM_011527205.2:c.14188C= XP_011525507.1:p.Pro4730=
NM_000540.3:c.14275C= MANE Select NP_000531.2:p.Pro4759=
NM_001042723.2:c.14260C= NP_001036188.1:p.Pro4754=