Canonical Allele Identifier: CA633066250

Gene: RYR1

Linked Data

• dbSNP Id: rs1568506352
• gnomAD v2: 19-38993413-G-GCAGGGT
• gnomAD v4: 19-38502773-G-GCAGGGT
• MyVariant Identifiers: chr19:g.38993415_38993416insGGGTCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502778_38502779insTCAGGG , CM000681.2:g.38502778_38502779insTCAGGG	GRCh38
NC_000019.9:g.38993418_38993419insTCAGGG , CM000681.1:g.38993418_38993419insTCAGGG	GRCh37
NC_000019.8:g.43685258_43685259insTCAGGG	NCBI36
NG_008866.1:g.74079_74080insTCAGGG , LRG_766:g.74079_74080insTCAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+51_7835+52insTCAGGG	ENSP00000471601.2:n.7835+51_7835+52insTCAGGG
ENST00000359596.8:c.7835+51_7835+52insTCAGGG MANE Select	ENSP00000352608.2:n.7835+51_7835+52insTCAGGG
ENST00000355481.8:c.7835+51_7835+52insTCAGGG	ENSP00000347667.3:n.7835+51_7835+52insTCAGGG
ENST00000359596.7:c.7835+51_7835+52insTCAGGG	ENSP00000352608.2:n.7835+51_7835+52insTCAGGG
ENST00000360985.7:c.7832+51_7832+52insTCAGGG	ENSP00000354254.4:n.7832+51_7832+52insTCAGGG
ENST00000594335.5:c.1287+51_1287+52insTCAGGG
NM_000540.2:c.7835+51_7835+52insTCAGGG , LRG_766t1:c.7835+51_7835+52insTCAGGG	NP_000531.2:n.7835+51_7835+52insTCAGGG
NM_001042723.1:c.7835+51_7835+52insTCAGGG	NP_001036188.1:n.7835+51_7835+52insTCAGGG
XM_006723317.1:c.7835+51_7835+52insTCAGGG	XP_006723380.1:n.7835+51_7835+52insTCAGGG
XM_006723319.1:c.7835+51_7835+52insTCAGGG	XP_006723382.1:n.7835+51_7835+52insTCAGGG
XM_011527204.1:c.7832+51_7832+52insTCAGGG	XP_011525506.1:n.7832+51_7832+52insTCAGGG
XM_011527205.1:c.7835+51_7835+52insTCAGGG	XP_011525507.1:n.7835+51_7835+52insTCAGGG
XM_006723317.2:c.7835+51_7835+52insTCAGGG	XP_006723380.1:n.7835+51_7835+52insTCAGGG
XM_006723319.2:c.7835+51_7835+52insTCAGGG	XP_006723382.1:n.7835+51_7835+52insTCAGGG
XM_011527205.2:c.7835+51_7835+52insTCAGGG	XP_011525507.1:n.7835+51_7835+52insTCAGGG
XR_001753735.1:n.7918+51_7918+52insTCAGGG
NM_000540.3:c.7835+51_7835+52insTCAGGG MANE Select	NP_000531.2:n.7835+51_7835+52insTCAGGG
NM_001042723.2:c.7835+51_7835+52insTCAGGG	NP_001036188.1:n.7835+51_7835+52insTCAGGG