Canonical Allele Identifier: CA405681171
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572200C>G , CM000681.2:g.38572200C>G GRCh38
NC_000019.9:g.39062840C>G , CM000681.1:g.39062840C>G GRCh37
NC_000019.8:g.43754680C>G NCBI36
NG_008866.1:g.143501C>G , LRG_766:g.143501C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.864C>G
ENST00000688602.1:c.2261C>G
ENST00000689936.1:c.2233C>G
ENST00000359596.8:c.13928C>G MANE Select ENSP00000352608.2:p.Ala4643Gly
ENST00000355481.8:c.13913C>G ENSP00000347667.3:p.Ala4638Gly
ENST00000359596.7:c.13928C>G ENSP00000352608.2:p.Ala4643Gly
ENST00000360985.7:c.13910C>G ENSP00000354254.4:p.Ala4637Gly
ENST00000593677.1:c.388C>G
NM_000540.2:c.13928C>G , LRG_766t1:c.13928C>G NP_000531.2:p.Ala4643Gly
NM_001042723.1:c.13913C>G NP_001036188.1:p.Ala4638Gly
XM_006723317.1:c.13910C>G XP_006723380.1:p.Ala4637Gly
XM_006723319.1:c.13895C>G XP_006723382.1:p.Ala4632Gly
XM_011527204.1:c.13925C>G XP_011525506.1:p.Ala4642Gly
XM_011527205.1:c.13841C>G XP_011525507.1:p.Ala4614Gly
XM_006723317.2:c.13910C>G XP_006723380.1:p.Ala4637Gly
XM_006723319.2:c.13895C>G XP_006723382.1:p.Ala4632Gly
XM_011527205.2:c.13841C>G XP_011525507.1:p.Ala4614Gly
NM_000540.3:c.13928C>G MANE Select NP_000531.2:p.Ala4643Gly
NM_001042723.2:c.13913C>G NP_001036188.1:p.Ala4638Gly