Canonical Allele Identifier: CA405667997
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.38990333G>T (hg19) chr19:g.38499693G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499693G>T , CM000681.2:g.38499693G>T GRCh38
NC_000019.9:g.38990333G>T , CM000681.1:g.38990333G>T GRCh37
NC_000019.8:g.43682173G>T NCBI36
NG_008866.1:g.70994G>T , LRG_766:g.70994G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7086G>T ENSP00000471601.2:p.Glu2362Asp
ENST00000359596.8:c.7086G>T MANE Select ENSP00000352608.2:p.Glu2362Asp
ENST00000355481.8:c.7086G>T ENSP00000347667.3:p.Glu2362Asp
ENST00000359596.7:c.7086G>T ENSP00000352608.2:p.Glu2362Asp
ENST00000360985.7:c.7083G>T ENSP00000354254.4:p.Glu2361Asp
ENST00000594335.5:c.538G>T
NM_000540.2:c.7086G>T , LRG_766t1:c.7086G>T NP_000531.2:p.Glu2362Asp
NM_001042723.1:c.7086G>T NP_001036188.1:p.Glu2362Asp
XM_006723317.1:c.7086G>T XP_006723380.1:p.Glu2362Asp
XM_006723319.1:c.7086G>T XP_006723382.1:p.Glu2362Asp
XM_011527204.1:c.7083G>T XP_011525506.1:p.Glu2361Asp
XM_011527205.1:c.7086G>T XP_011525507.1:p.Glu2362Asp
XM_006723317.2:c.7086G>T XP_006723380.1:p.Glu2362Asp
XM_006723319.2:c.7086G>T XP_006723382.1:p.Glu2362Asp
XM_011527205.2:c.7086G>T XP_011525507.1:p.Glu2362Asp
XR_001753735.1:n.7169G>T
NM_000540.3:c.7086G>T MANE Select NP_000531.2:p.Glu2362Asp
NM_001042723.2:c.7086G>T NP_001036188.1:p.Glu2362Asp
Search 100 bp 5'
Search 100 bp 3'