Canonical Allele Identifier: CA9415882

Gene: RYR1

Linked Data

• dbSNP Id: rs777071069
• ExAC: 19:38993411 GGGC / G
• gnomAD v4: 19-38502771-GGGC-G
• MyVariant Identifiers: chr19:g.38993412_38993414del (hg19) ; chr19:g.38502772_38502774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502772_38502774del , CM000681.2:g.38502772_38502774del	GRCh38
NC_000019.9:g.38993412_38993414del , CM000681.1:g.38993412_38993414del	GRCh37
NC_000019.8:g.43685252_43685254del	NCBI36
NG_008866.1:g.74073_74075del , LRG_766:g.74073_74075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+45_7835+47del	ENSP00000471601.2:n.7835+45_7835+47del
ENST00000359596.8:c.7835+45_7835+47del MANE Select	ENSP00000352608.2:n.7835+45_7835+47del
ENST00000355481.8:c.7835+45_7835+47del	ENSP00000347667.3:n.7835+45_7835+47del
ENST00000359596.7:c.7835+45_7835+47del	ENSP00000352608.2:n.7835+45_7835+47del
ENST00000360985.7:c.7832+45_7832+47del	ENSP00000354254.4:n.7832+45_7832+47del
ENST00000594335.5:c.1287+45_1287+47del
NM_000540.2:c.7835+45_7835+47del , LRG_766t1:c.7835+45_7835+47del	NP_000531.2:n.7835+45_7835+47del
NM_001042723.1:c.7835+45_7835+47del	NP_001036188.1:n.7835+45_7835+47del
XM_006723317.1:c.7835+45_7835+47del	XP_006723380.1:n.7835+45_7835+47del
XM_006723319.1:c.7835+45_7835+47del	XP_006723382.1:n.7835+45_7835+47del
XM_011527204.1:c.7832+45_7832+47del	XP_011525506.1:n.7832+45_7832+47del
XM_011527205.1:c.7835+45_7835+47del	XP_011525507.1:n.7835+45_7835+47del
XM_006723317.2:c.7835+45_7835+47del	XP_006723380.1:n.7835+45_7835+47del
XM_006723319.2:c.7835+45_7835+47del	XP_006723382.1:n.7835+45_7835+47del
XM_011527205.2:c.7835+45_7835+47del	XP_011525507.1:n.7835+45_7835+47del
XR_001753735.1:n.7918+45_7918+47del
NM_000540.3:c.7835+45_7835+47del MANE Select	NP_000531.2:n.7835+45_7835+47del
NM_001042723.2:c.7835+45_7835+47del	NP_001036188.1:n.7835+45_7835+47del