Canonical Allele Identifier: CA405687572
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580377T>C , CM000681.2:g.38580377T>C GRCh38
NC_000019.9:g.39071017T>C , CM000681.1:g.39071017T>C GRCh37
NC_000019.8:g.43762857T>C NCBI36
NG_008866.1:g.151678T>C , LRG_766:g.151678T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1455T>C
ENST00000688602.1:c.2852T>C
ENST00000689936.1:c.2824T>C
ENST00000359596.8:c.14519T>C MANE Select ENSP00000352608.2:p.Met4840Thr
ENST00000355481.8:c.14504T>C ENSP00000347667.3:p.Met4835Thr
ENST00000359596.7:c.14519T>C ENSP00000352608.2:p.Met4840Thr
ENST00000360985.7:c.14501T>C ENSP00000354254.4:p.Met4834Thr
NM_000540.2:c.14519T>C , LRG_766t1:c.14519T>C NP_000531.2:p.Met4840Thr
NM_001042723.1:c.14504T>C NP_001036188.1:p.Met4835Thr
XM_006723317.1:c.14501T>C XP_006723380.1:p.Met4834Thr
XM_006723319.1:c.14486T>C XP_006723382.1:p.Met4829Thr
XM_011527204.1:c.14516T>C XP_011525506.1:p.Met4839Thr
XM_011527205.1:c.14432T>C XP_011525507.1:p.Met4811Thr
XM_006723317.2:c.14501T>C XP_006723380.1:p.Met4834Thr
XM_006723319.2:c.14486T>C XP_006723382.1:p.Met4829Thr
XM_011527205.2:c.14432T>C XP_011525507.1:p.Met4811Thr
NM_000540.3:c.14519T>C MANE Select NP_000531.2:p.Met4840Thr
NM_001042723.2:c.14504T>C NP_001036188.1:p.Met4835Thr