Canonical Allele Identifier: CA995718231

Gene: RYR1

Linked Data

• dbSNP Id: rs1970232571
• gnomAD v3: 19-38502800-G-GCA
• gnomAD v4: 19-38502800-G-GCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502800_38502801insCA , CM000681.2:g.38502800_38502801insCA	GRCh38
NC_000019.9:g.38993440_38993441insCA , CM000681.1:g.38993440_38993441insCA	GRCh37
NC_000019.8:g.43685280_43685281insCA	NCBI36
NG_008866.1:g.74101_74102insCA , LRG_766:g.74101_74102insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+73_7835+74insCA	ENSP00000471601.2:n.7835+73_7835+74insCA
ENST00000359596.8:c.7835+73_7835+74insCA MANE Select	ENSP00000352608.2:n.7835+73_7835+74insCA
ENST00000355481.8:c.7835+73_7835+74insCA	ENSP00000347667.3:n.7835+73_7835+74insCA
ENST00000359596.7:c.7835+73_7835+74insCA	ENSP00000352608.2:n.7835+73_7835+74insCA
ENST00000360985.7:c.7832+73_7832+74insCA	ENSP00000354254.4:n.7832+73_7832+74insCA
ENST00000594335.5:c.1287+73_1287+74insCA
NM_000540.2:c.7835+73_7835+74insCA , LRG_766t1:c.7835+73_7835+74insCA	NP_000531.2:n.7835+73_7835+74insCA
NM_001042723.1:c.7835+73_7835+74insCA	NP_001036188.1:n.7835+73_7835+74insCA
XM_006723317.1:c.7835+73_7835+74insCA	XP_006723380.1:n.7835+73_7835+74insCA
XM_006723319.1:c.7835+73_7835+74insCA	XP_006723382.1:n.7835+73_7835+74insCA
XM_011527204.1:c.7832+73_7832+74insCA	XP_011525506.1:n.7832+73_7832+74insCA
XM_011527205.1:c.7835+73_7835+74insCA	XP_011525507.1:n.7835+73_7835+74insCA
XM_006723317.2:c.7835+73_7835+74insCA	XP_006723380.1:n.7835+73_7835+74insCA
XM_006723319.2:c.7835+73_7835+74insCA	XP_006723382.1:n.7835+73_7835+74insCA
XM_011527205.2:c.7835+73_7835+74insCA	XP_011525507.1:n.7835+73_7835+74insCA
XR_001753735.1:n.7918+73_7918+74insCA
NM_000540.3:c.7835+73_7835+74insCA MANE Select	NP_000531.2:n.7835+73_7835+74insCA
NM_001042723.2:c.7835+73_7835+74insCA	NP_001036188.1:n.7835+73_7835+74insCA