Canonical Allele Identifier: CA405681836
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573187T>C , CM000681.2:g.38573187T>C GRCh38
NC_000019.9:g.39063827T>C , CM000681.1:g.39063827T>C GRCh37
NC_000019.8:g.43755667T>C NCBI36
NG_008866.1:g.144488T>C , LRG_766:g.144488T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.945T>C
ENST00000688602.1:c.2342T>C
ENST00000689936.1:c.2314T>C
ENST00000359596.8:c.14009T>C MANE Select ENSP00000352608.2:p.Val4670Ala
ENST00000355481.8:c.13994T>C ENSP00000347667.3:p.Val4665Ala
ENST00000359596.7:c.14009T>C ENSP00000352608.2:p.Val4670Ala
ENST00000360985.7:c.13991T>C ENSP00000354254.4:p.Val4664Ala
NM_000540.2:c.14009T>C , LRG_766t1:c.14009T>C NP_000531.2:p.Val4670Ala
NM_001042723.1:c.13994T>C NP_001036188.1:p.Val4665Ala
XM_006723317.1:c.13991T>C XP_006723380.1:p.Val4664Ala
XM_006723319.1:c.13976T>C XP_006723382.1:p.Val4659Ala
XM_011527204.1:c.14006T>C XP_011525506.1:p.Val4669Ala
XM_011527205.1:c.13922T>C XP_011525507.1:p.Val4641Ala
XM_006723317.2:c.13991T>C XP_006723380.1:p.Val4664Ala
XM_006723319.2:c.13976T>C XP_006723382.1:p.Val4659Ala
XM_011527205.2:c.13922T>C XP_011525507.1:p.Val4641Ala
NM_000540.3:c.14009T>C MANE Select NP_000531.2:p.Val4670Ala
NM_001042723.2:c.13994T>C NP_001036188.1:p.Val4665Ala