Canonical Allele Identifier: CA405684274
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068579A>T (hg19) chr19:g.38577939A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577939A>T , CM000681.2:g.38577939A>T GRCh38
NC_000019.9:g.39068579A>T , CM000681.1:g.39068579A>T GRCh37
NC_000019.8:g.43760419A>T NCBI36
NG_008866.1:g.149240A>T , LRG_766:g.149240A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1130A>T
ENST00000688602.1:c.2527A>T
ENST00000689936.1:c.2499A>T
ENST00000359596.8:c.14194A>T MANE Select ENSP00000352608.2:p.Ile4732Phe
ENST00000355481.8:c.14179A>T ENSP00000347667.3:p.Ile4727Phe
ENST00000359596.7:c.14194A>T ENSP00000352608.2:p.Ile4732Phe
ENST00000360985.7:c.14176A>T ENSP00000354254.4:p.Ile4726Phe
NM_000540.2:c.14194A>T , LRG_766t1:c.14194A>T NP_000531.2:p.Ile4732Phe
NM_001042723.1:c.14179A>T NP_001036188.1:p.Ile4727Phe
XM_006723317.1:c.14176A>T XP_006723380.1:p.Ile4726Phe
XM_006723319.1:c.14161A>T XP_006723382.1:p.Ile4721Phe
XM_011527204.1:c.14191A>T XP_011525506.1:p.Ile4731Phe
XM_011527205.1:c.14107A>T XP_011525507.1:p.Ile4703Phe
XM_006723317.2:c.14176A>T XP_006723380.1:p.Ile4726Phe
XM_006723319.2:c.14161A>T XP_006723382.1:p.Ile4721Phe
XM_011527205.2:c.14107A>T XP_011525507.1:p.Ile4703Phe
NM_000540.3:c.14194A>T MANE Select NP_000531.2:p.Ile4732Phe
NM_001042723.2:c.14179A>T NP_001036188.1:p.Ile4727Phe
Search 100 bp 5'
Search 100 bp 3'