Canonical Allele Identifier: CA995717372

Gene: RYR1

Linked Data

• gnomAD v3: 19-38502748-G-GCGGGGCAGGCTTCA
• gnomAD v4: 19-38502748-G-GCGGGGCAGGCTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502748_38502749insCGGGGCAGGCTTCA , CM000681.2:g.38502748_38502749insCGGGGCAGGCTTCA	GRCh38
NC_000019.9:g.38993388_38993389insCGGGGCAGGCTTCA , CM000681.1:g.38993388_38993389insCGGGGCAGGCTTCA	GRCh37
NC_000019.8:g.43685228_43685229insCGGGGCAGGCTTCA	NCBI36
NG_008866.1:g.74049_74050insCGGGGCAGGCTTCA , LRG_766:g.74049_74050insCGGGGCAGGCTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+21_7835+22insCGGGGCAGGCTTCA	ENSP00000471601.2:n.7835+21_7835+22insCGGGGCAGGCTTCA
ENST00000359596.8:c.7835+21_7835+22insCGGGGCAGGCTTCA MANE Select	ENSP00000352608.2:n.7835+21_7835+22insCGGGGCAGGCTTCA
ENST00000355481.8:c.7835+21_7835+22insCGGGGCAGGCTTCA	ENSP00000347667.3:n.7835+21_7835+22insCGGGGCAGGCTTCA
ENST00000359596.7:c.7835+21_7835+22insCGGGGCAGGCTTCA	ENSP00000352608.2:n.7835+21_7835+22insCGGGGCAGGCTTCA
ENST00000360985.7:c.7832+21_7832+22insCGGGGCAGGCTTCA	ENSP00000354254.4:n.7832+21_7832+22insCGGGGCAGGCTTCA
ENST00000594335.5:c.1287+21_1287+22insCGGGGCAGGCTTCA
NM_000540.2:c.7835+21_7835+22insCGGGGCAGGCTTCA , LRG_766t1:c.7835+21_7835+22insCGGGGCAGGCTTCA	NP_000531.2:n.7835+21_7835+22insCGGGGCAGGCTTCA
NM_001042723.1:c.7835+21_7835+22insCGGGGCAGGCTTCA	NP_001036188.1:n.7835+21_7835+22insCGGGGCAGGCTTCA
XM_006723317.1:c.7835+21_7835+22insCGGGGCAGGCTTCA	XP_006723380.1:n.7835+21_7835+22insCGGGGCAGGCTTCA
XM_006723319.1:c.7835+21_7835+22insCGGGGCAGGCTTCA	XP_006723382.1:n.7835+21_7835+22insCGGGGCAGGCTTCA
XM_011527204.1:c.7832+21_7832+22insCGGGGCAGGCTTCA	XP_011525506.1:n.7832+21_7832+22insCGGGGCAGGCTTCA
XM_011527205.1:c.7835+21_7835+22insCGGGGCAGGCTTCA	XP_011525507.1:n.7835+21_7835+22insCGGGGCAGGCTTCA
XM_006723317.2:c.7835+21_7835+22insCGGGGCAGGCTTCA	XP_006723380.1:n.7835+21_7835+22insCGGGGCAGGCTTCA
XM_006723319.2:c.7835+21_7835+22insCGGGGCAGGCTTCA	XP_006723382.1:n.7835+21_7835+22insCGGGGCAGGCTTCA
XM_011527205.2:c.7835+21_7835+22insCGGGGCAGGCTTCA	XP_011525507.1:n.7835+21_7835+22insCGGGGCAGGCTTCA
XR_001753735.1:n.7918+21_7918+22insCGGGGCAGGCTTCA
NM_000540.3:c.7835+21_7835+22insCGGGGCAGGCTTCA MANE Select	NP_000531.2:n.7835+21_7835+22insCGGGGCAGGCTTCA
NM_001042723.2:c.7835+21_7835+22insCGGGGCAGGCTTCA	NP_001036188.1:n.7835+21_7835+22insCGGGGCAGGCTTCA