Canonical Allele Identifier: CA2335054593

Gene: RYR1

Linked Data

• dbSNP Id: rs1970222335
• gnomAD v4: 19-38502784-G-GGCAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502789_38502790insAGCAGG , CM000681.2:g.38502789_38502790insAGCAGG	GRCh38
NC_000019.9:g.38993429_38993430insAGCAGG , CM000681.1:g.38993429_38993430insAGCAGG	GRCh37
NC_000019.8:g.43685269_43685270insAGCAGG	NCBI36
NG_008866.1:g.74090_74091insAGCAGG , LRG_766:g.74090_74091insAGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+62_7835+63insAGCAGG	ENSP00000471601.2:n.7835+62_7835+63insAGCAGG
ENST00000359596.8:c.7835+62_7835+63insAGCAGG MANE Select	ENSP00000352608.2:n.7835+62_7835+63insAGCAGG
ENST00000355481.8:c.7835+62_7835+63insAGCAGG	ENSP00000347667.3:n.7835+62_7835+63insAGCAGG
ENST00000359596.7:c.7835+62_7835+63insAGCAGG	ENSP00000352608.2:n.7835+62_7835+63insAGCAGG
ENST00000360985.7:c.7832+62_7832+63insAGCAGG	ENSP00000354254.4:n.7832+62_7832+63insAGCAGG
ENST00000594335.5:c.1287+62_1287+63insAGCAGG
NM_000540.2:c.7835+62_7835+63insAGCAGG , LRG_766t1:c.7835+62_7835+63insAGCAGG	NP_000531.2:n.7835+62_7835+63insAGCAGG
NM_001042723.1:c.7835+62_7835+63insAGCAGG	NP_001036188.1:n.7835+62_7835+63insAGCAGG
XM_006723317.1:c.7835+62_7835+63insAGCAGG	XP_006723380.1:n.7835+62_7835+63insAGCAGG
XM_006723319.1:c.7835+62_7835+63insAGCAGG	XP_006723382.1:n.7835+62_7835+63insAGCAGG
XM_011527204.1:c.7832+62_7832+63insAGCAGG	XP_011525506.1:n.7832+62_7832+63insAGCAGG
XM_011527205.1:c.7835+62_7835+63insAGCAGG	XP_011525507.1:n.7835+62_7835+63insAGCAGG
XM_006723317.2:c.7835+62_7835+63insAGCAGG	XP_006723380.1:n.7835+62_7835+63insAGCAGG
XM_006723319.2:c.7835+62_7835+63insAGCAGG	XP_006723382.1:n.7835+62_7835+63insAGCAGG
XM_011527205.2:c.7835+62_7835+63insAGCAGG	XP_011525507.1:n.7835+62_7835+63insAGCAGG
XR_001753735.1:n.7918+62_7918+63insAGCAGG
NM_000540.3:c.7835+62_7835+63insAGCAGG MANE Select	NP_000531.2:n.7835+62_7835+63insAGCAGG
NM_001042723.2:c.7835+62_7835+63insAGCAGG	NP_001036188.1:n.7835+62_7835+63insAGCAGG