Canonical Allele Identifier: CA308125198

Gene: RYR1

Linked Data

• dbSNP Id: rs112047209
• gnomAD v3: 19-38584651-CTT-C
• gnomAD v4: 19-38584651-CTT-C
• MyVariant Identifiers: chr19:g.39075292_39075293del (hg19) ; chr19:g.38584652_38584653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584652_38584653del , CM000681.2:g.38584652_38584653del	GRCh38
NC_000019.9:g.39075292_39075293del , CM000681.1:g.39075292_39075293del	GRCh37
NC_000019.8:g.43767132_43767133del	NCBI36
NG_008866.1:g.155953_155954del , LRG_766:g.155953_155954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-291_1583-290del
ENST00000688602.1:c.2980-291_2980-290del
ENST00000689936.1:c.2952-291_2952-290del
ENST00000359596.8:c.14647-291_14647-290del MANE Select	ENSP00000352608.2:n.14647-291_14647-290del
ENST00000355481.8:c.14632-291_14632-290del	ENSP00000347667.3:n.14632-291_14632-290del
ENST00000359596.7:c.14647-291_14647-290del	ENSP00000352608.2:n.14647-291_14647-290del
ENST00000360985.7:c.14629-291_14629-290del	ENSP00000354254.4:n.14629-291_14629-290del
NM_000540.2:c.14647-291_14647-290del , LRG_766t1:c.14647-291_14647-290del	NP_000531.2:n.14647-291_14647-290del
NM_001042723.1:c.14632-291_14632-290del	NP_001036188.1:n.14632-291_14632-290del
XM_006723317.1:c.14629-291_14629-290del	XP_006723380.1:n.14629-291_14629-290del
XM_006723319.1:c.14614-291_14614-290del	XP_006723382.1:n.14614-291_14614-290del
XM_011527204.1:c.14644-291_14644-290del	XP_011525506.1:n.14644-291_14644-290del
XM_011527205.1:c.14560-291_14560-290del	XP_011525507.1:n.14560-291_14560-290del
XM_006723317.2:c.14629-291_14629-290del	XP_006723380.1:n.14629-291_14629-290del
XM_006723319.2:c.14614-291_14614-290del	XP_006723382.1:n.14614-291_14614-290del
XM_011527205.2:c.14560-291_14560-290del	XP_011525507.1:n.14560-291_14560-290del
NM_000540.3:c.14647-291_14647-290del MANE Select	NP_000531.2:n.14647-291_14647-290del
NM_001042723.2:c.14632-291_14632-290del	NP_001036188.1:n.14632-291_14632-290del