Canonical Allele Identifier: CA405682260
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39063880T>G (hg19) chr19:g.38573240T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573240T>G , CM000681.2:g.38573240T>G GRCh38
NC_000019.9:g.39063880T>G , CM000681.1:g.39063880T>G GRCh37
NC_000019.8:g.43755720T>G NCBI36
NG_008866.1:g.144541T>G , LRG_766:g.144541T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.998T>G
ENST00000688602.1:c.2395T>G
ENST00000689936.1:c.2367T>G
ENST00000359596.8:c.14062T>G MANE Select ENSP00000352608.2:p.Tyr4688Asp
ENST00000355481.8:c.14047T>G ENSP00000347667.3:p.Tyr4683Asp
ENST00000359596.7:c.14062T>G ENSP00000352608.2:p.Tyr4688Asp
ENST00000360985.7:c.14044T>G ENSP00000354254.4:p.Tyr4682Asp
NM_000540.2:c.14062T>G , LRG_766t1:c.14062T>G NP_000531.2:p.Tyr4688Asp
NM_001042723.1:c.14047T>G NP_001036188.1:p.Tyr4683Asp
XM_006723317.1:c.14044T>G XP_006723380.1:p.Tyr4682Asp
XM_006723319.1:c.14029T>G XP_006723382.1:p.Tyr4677Asp
XM_011527204.1:c.14059T>G XP_011525506.1:p.Tyr4687Asp
XM_011527205.1:c.13975T>G XP_011525507.1:p.Tyr4659Asp
XM_006723317.2:c.14044T>G XP_006723380.1:p.Tyr4682Asp
XM_006723319.2:c.14029T>G XP_006723382.1:p.Tyr4677Asp
XM_011527205.2:c.13975T>G XP_011525507.1:p.Tyr4659Asp
NM_000540.3:c.14062T>G MANE Select NP_000531.2:p.Tyr4688Asp
NM_001042723.2:c.14047T>G NP_001036188.1:p.Tyr4683Asp
Search 100 bp 5'
Search 100 bp 3'