Canonical Allele Identifier: CA920105597

Gene: RYR1

Linked Data

• dbSNP Id: rs1555784546

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502783_38502784insCAGGGCAGGGGCAGGGG , CM000681.2:g.38502783_38502784insCAGGGCAGGGGCAGGGG	GRCh38
NC_000019.9:g.38993423_38993424insCAGGGCAGGGGCAGGGG , CM000681.1:g.38993423_38993424insCAGGGCAGGGGCAGGGG	GRCh37
NC_000019.8:g.43685263_43685264insCAGGGCAGGGGCAGGGG	NCBI36
NG_008866.1:g.74084_74085insCAGGGCAGGGGCAGGGG , LRG_766:g.74084_74085insCAGGGCAGGGGCAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	ENSP00000471601.2:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
ENST00000359596.8:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG MANE Select	ENSP00000352608.2:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
ENST00000355481.8:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	ENSP00000347667.3:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
ENST00000359596.7:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	ENSP00000352608.2:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
ENST00000360985.7:c.7832+56_7832+57insCAGGGCAGGGGCAGGGG	ENSP00000354254.4:n.7832+56_7832+57insCAGGGCAGGGGCAGGGG
ENST00000594335.5:c.1287+56_1287+57insCAGGGCAGGGGCAGGGG
NM_000540.2:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG , LRG_766t1:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	NP_000531.2:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
NM_001042723.1:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	NP_001036188.1:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
XM_006723317.1:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	XP_006723380.1:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
XM_006723319.1:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	XP_006723382.1:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
XM_011527204.1:c.7832+56_7832+57insCAGGGCAGGGGCAGGGG	XP_011525506.1:n.7832+56_7832+57insCAGGGCAGGGGCAGGGG
XM_011527205.1:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	XP_011525507.1:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
XM_006723317.2:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	XP_006723380.1:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
XM_006723319.2:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	XP_006723382.1:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
XM_011527205.2:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	XP_011525507.1:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
XR_001753735.1:n.7918+56_7918+57insCAGGGCAGGGGCAGGGG
NM_000540.3:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG MANE Select	NP_000531.2:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG
NM_001042723.2:c.7835+56_7835+57insCAGGGCAGGGGCAGGGG	NP_001036188.1:n.7835+56_7835+57insCAGGGCAGGGGCAGGGG