Canonical Allele Identifier: CA308125175

Gene: RYR1

Linked Data

• dbSNP Id: rs772842884
• MyVariant Identifiers: chr19:g.39075178_39075211del (hg19) ; chr19:g.38584538_38584571del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584551_38584584del , CM000681.2:g.38584551_38584584del	GRCh38
NC_000019.9:g.39075191_39075224del , CM000681.1:g.39075191_39075224del	GRCh37
NC_000019.8:g.43767031_43767064del	NCBI36
NG_008866.1:g.155852_155885del , LRG_766:g.155852_155885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-392_1583-359del
ENST00000688602.1:c.2980-392_2980-359del
ENST00000689936.1:c.2952-392_2952-359del
ENST00000359596.8:c.14647-392_14647-359del MANE Select	ENSP00000352608.2:n.14647-392_14647-359del
ENST00000355481.8:c.14632-392_14632-359del	ENSP00000347667.3:n.14632-392_14632-359del
ENST00000359596.7:c.14647-392_14647-359del	ENSP00000352608.2:n.14647-392_14647-359del
ENST00000360985.7:c.14629-392_14629-359del	ENSP00000354254.4:n.14629-392_14629-359del
NM_000540.2:c.14647-392_14647-359del , LRG_766t1:c.14647-392_14647-359del	NP_000531.2:n.14647-392_14647-359del
NM_001042723.1:c.14632-392_14632-359del	NP_001036188.1:n.14632-392_14632-359del
XM_006723317.1:c.14629-392_14629-359del	XP_006723380.1:n.14629-392_14629-359del
XM_006723319.1:c.14614-392_14614-359del	XP_006723382.1:n.14614-392_14614-359del
XM_011527204.1:c.14644-392_14644-359del	XP_011525506.1:n.14644-392_14644-359del
XM_011527205.1:c.14560-392_14560-359del	XP_011525507.1:n.14560-392_14560-359del
XM_006723317.2:c.14629-392_14629-359del	XP_006723380.1:n.14629-392_14629-359del
XM_006723319.2:c.14614-392_14614-359del	XP_006723382.1:n.14614-392_14614-359del
XM_011527205.2:c.14560-392_14560-359del	XP_011525507.1:n.14560-392_14560-359del
NM_000540.3:c.14647-392_14647-359del MANE Select	NP_000531.2:n.14647-392_14647-359del
NM_001042723.2:c.14632-392_14632-359del	NP_001036188.1:n.14632-392_14632-359del