Canonical Allele Identifier: CA405685052
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578154A>C , CM000681.2:g.38578154A>C GRCh38
NC_000019.9:g.39068794A>C , CM000681.1:g.39068794A>C GRCh37
NC_000019.8:g.43760634A>C NCBI36
NG_008866.1:g.149455A>C , LRG_766:g.149455A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1250A>C
ENST00000688602.1:c.2647A>C
ENST00000689936.1:c.2619A>C
ENST00000359596.8:c.14314A>C MANE Select ENSP00000352608.2:p.Ile4772Leu
ENST00000355481.8:c.14299A>C ENSP00000347667.3:p.Ile4767Leu
ENST00000359596.7:c.14314A>C ENSP00000352608.2:p.Ile4772Leu
ENST00000360985.7:c.14296A>C ENSP00000354254.4:p.Ile4766Leu
NM_000540.2:c.14314A>C , LRG_766t1:c.14314A>C NP_000531.2:p.Ile4772Leu
NM_001042723.1:c.14299A>C NP_001036188.1:p.Ile4767Leu
XM_006723317.1:c.14296A>C XP_006723380.1:p.Ile4766Leu
XM_006723319.1:c.14281A>C XP_006723382.1:p.Ile4761Leu
XM_011527204.1:c.14311A>C XP_011525506.1:p.Ile4771Leu
XM_011527205.1:c.14227A>C XP_011525507.1:p.Ile4743Leu
XM_006723317.2:c.14296A>C XP_006723380.1:p.Ile4766Leu
XM_006723319.2:c.14281A>C XP_006723382.1:p.Ile4761Leu
XM_011527205.2:c.14227A>C XP_011525507.1:p.Ile4743Leu
NM_000540.3:c.14314A>C MANE Select NP_000531.2:p.Ile4772Leu
NM_001042723.2:c.14299A>C NP_001036188.1:p.Ile4767Leu