Canonical Allele Identifier: CA633066751

Gene: RYR1

Linked Data

• dbSNP Id: rs1251850727
• gnomAD v2: 19-39034042-CATT-C
• gnomAD v4: 19-38543402-CATT-C
• MyVariant Identifiers: chr19:g.39034043_39034045del (hg19) ; chr19:g.38543403_38543405del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543403_38543405del , CM000681.2:g.38543403_38543405del	GRCh38
NC_000019.9:g.39034043_39034045del , CM000681.1:g.39034043_39034045del	GRCh37
NC_000019.8:g.43725883_43725885del	NCBI36
NG_008866.1:g.114704_114706del , LRG_766:g.114704_114706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.156_158del
ENST00000689936.1:c.138_140del
ENST00000359596.8:c.11746_11748del MANE Select	ENSP00000352608.2:p.Ile3916del
ENST00000355481.8:c.11731_11733del	ENSP00000347667.3:p.Ile3911del
ENST00000359596.7:c.11746_11748del	ENSP00000352608.2:p.Ile3916del
ENST00000360985.7:c.11728_11730del	ENSP00000354254.4:p.Ile3910del
ENST00000593322.1:c.355_357del
ENST00000594335.5:c.5115_5117del
NM_000540.2:c.11746_11748del , LRG_766t1:c.11746_11748del	NP_000531.2:p.Ile3916del
NM_001042723.1:c.11731_11733del	NP_001036188.1:p.Ile3911del
XM_006723317.1:c.11728_11730del	XP_006723380.1:p.Ile3910del
XM_006723319.1:c.11713_11715del	XP_006723382.1:p.Ile3905del
XM_011527204.1:c.11743_11745del	XP_011525506.1:p.Ile3915del
XM_011527205.1:c.11746_11748del	XP_011525507.1:p.Ile3916del
XM_006723317.2:c.11728_11730del	XP_006723380.1:p.Ile3910del
XM_006723319.2:c.11713_11715del	XP_006723382.1:p.Ile3905del
XM_011527205.2:c.11746_11748del	XP_011525507.1:p.Ile3916del
NM_000540.3:c.11746_11748del MANE Select	NP_000531.2:p.Ile3916del
NM_001042723.2:c.11731_11733del	NP_001036188.1:p.Ile3911del