Canonical Allele Identifier: CA405682085
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39063857G>T (hg19) chr19:g.38573217G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573217G>T , CM000681.2:g.38573217G>T GRCh38
NC_000019.9:g.39063857G>T , CM000681.1:g.39063857G>T GRCh37
NC_000019.8:g.43755697G>T NCBI36
NG_008866.1:g.144518G>T , LRG_766:g.144518G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.975G>T
ENST00000688602.1:c.2372G>T
ENST00000689936.1:c.2344G>T
ENST00000359596.8:c.14039G>T MANE Select ENSP00000352608.2:p.Arg4680Leu
ENST00000355481.8:c.14024G>T ENSP00000347667.3:p.Arg4675Leu
ENST00000359596.7:c.14039G>T ENSP00000352608.2:p.Arg4680Leu
ENST00000360985.7:c.14021G>T ENSP00000354254.4:p.Arg4674Leu
NM_000540.2:c.14039G>T , LRG_766t1:c.14039G>T NP_000531.2:p.Arg4680Leu
NM_001042723.1:c.14024G>T NP_001036188.1:p.Arg4675Leu
XM_006723317.1:c.14021G>T XP_006723380.1:p.Arg4674Leu
XM_006723319.1:c.14006G>T XP_006723382.1:p.Arg4669Leu
XM_011527204.1:c.14036G>T XP_011525506.1:p.Arg4679Leu
XM_011527205.1:c.13952G>T XP_011525507.1:p.Arg4651Leu
XM_006723317.2:c.14021G>T XP_006723380.1:p.Arg4674Leu
XM_006723319.2:c.14006G>T XP_006723382.1:p.Arg4669Leu
XM_011527205.2:c.13952G>T XP_011525507.1:p.Arg4651Leu
NM_000540.3:c.14039G>T MANE Select NP_000531.2:p.Arg4680Leu
NM_001042723.2:c.14024G>T NP_001036188.1:p.Arg4675Leu
Search 100 bp 5'
Search 100 bp 3'