Canonical Allele Identifier: CA2584900062
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38499858-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499861dup , CM000681.2:g.38499861dup GRCh38
NC_000019.9:g.38990501dup , CM000681.1:g.38990501dup GRCh37
NC_000019.8:g.43682341dup NCBI36
NG_008866.1:g.71162dup , LRG_766:g.71162dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7214+40dup ENSP00000471601.2:n.7214+40dup
ENST00000359596.8:c.7214+40dup MANE Select ENSP00000352608.2:n.7214+40dup
ENST00000355481.8:c.7214+40dup ENSP00000347667.3:n.7214+40dup
ENST00000359596.7:c.7214+40dup ENSP00000352608.2:n.7214+40dup
ENST00000360985.7:c.7211+40dup ENSP00000354254.4:n.7211+40dup
ENST00000594335.5:c.666+40dup
NM_000540.2:c.7214+40dup , LRG_766t1:c.7214+40dup NP_000531.2:n.7214+40dup
NM_001042723.1:c.7214+40dup NP_001036188.1:n.7214+40dup
XM_006723317.1:c.7214+40dup XP_006723380.1:n.7214+40dup
XM_006723319.1:c.7214+40dup XP_006723382.1:n.7214+40dup
XM_011527204.1:c.7211+40dup XP_011525506.1:n.7211+40dup
XM_011527205.1:c.7214+40dup XP_011525507.1:n.7214+40dup
XM_006723317.2:c.7214+40dup XP_006723380.1:n.7214+40dup
XM_006723319.2:c.7214+40dup XP_006723382.1:n.7214+40dup
XM_011527205.2:c.7214+40dup XP_011525507.1:n.7214+40dup
XR_001753735.1:n.7297+40dup
NM_000540.3:c.7214+40dup MANE Select NP_000531.2:n.7214+40dup
NM_001042723.2:c.7214+40dup NP_001036188.1:n.7214+40dup
Search 100 bp 5'
Search 100 bp 3'