Canonical Allele Identifier: CA405687184
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580066A>C , CM000681.2:g.38580066A>C GRCh38
NC_000019.9:g.39070706A>C , CM000681.1:g.39070706A>C GRCh37
NC_000019.8:g.43762546A>C NCBI36
NG_008866.1:g.151367A>C , LRG_766:g.151367A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1385A>C
ENST00000688602.1:c.2782A>C
ENST00000689936.1:c.2754A>C
ENST00000359596.8:c.14449A>C MANE Select ENSP00000352608.2:p.Ile4817Leu
ENST00000355481.8:c.14434A>C ENSP00000347667.3:p.Ile4812Leu
ENST00000359596.7:c.14449A>C ENSP00000352608.2:p.Ile4817Leu
ENST00000360985.7:c.14431A>C ENSP00000354254.4:p.Ile4811Leu
NM_000540.2:c.14449A>C , LRG_766t1:c.14449A>C NP_000531.2:p.Ile4817Leu
NM_001042723.1:c.14434A>C NP_001036188.1:p.Ile4812Leu
XM_006723317.1:c.14431A>C XP_006723380.1:p.Ile4811Leu
XM_006723319.1:c.14416A>C XP_006723382.1:p.Ile4806Leu
XM_011527204.1:c.14446A>C XP_011525506.1:p.Ile4816Leu
XM_011527205.1:c.14362A>C XP_011525507.1:p.Ile4788Leu
XM_006723317.2:c.14431A>C XP_006723380.1:p.Ile4811Leu
XM_006723319.2:c.14416A>C XP_006723382.1:p.Ile4806Leu
XM_011527205.2:c.14362A>C XP_011525507.1:p.Ile4788Leu
NM_000540.3:c.14449A>C MANE Select NP_000531.2:p.Ile4817Leu
NM_001042723.2:c.14434A>C NP_001036188.1:p.Ile4812Leu