Canonical Allele Identifier: CA080416

Gene: RYR1

Linked Data

• dbSNP Id: rs1972284060
• gnomAD v4: 19-38543391-A-G
• MyVariant Identifiers: chr19:g.39034031A>G (hg19) ; chr19:g.38543391A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543391A>G , CM000681.2:g.38543391A>G	GRCh38
NC_000019.9:g.39034031A>G , CM000681.1:g.39034031A>G	GRCh37
NC_000019.8:g.43725871A>G	NCBI36
NG_008866.1:g.114692A>G , LRG_766:g.114692A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.144A>G
ENST00000689936.1:c.126A>G
ENST00000359596.8:c.11734A>G MANE Select	ENSP00000352608.2:p.Ile3912Val
ENST00000355481.8:c.11719A>G	ENSP00000347667.3:p.Ile3907Val
ENST00000359596.7:c.11734A>G	ENSP00000352608.2:p.Ile3912Val
ENST00000360985.7:c.11716A>G	ENSP00000354254.4:p.Ile3906Val
ENST00000593322.1:c.343A>G
ENST00000594335.5:c.5103A>G
NM_000540.2:c.11734A>G , LRG_766t1:c.11734A>G	NP_000531.2:p.Ile3912Val
NM_001042723.1:c.11719A>G	NP_001036188.1:p.Ile3907Val
XM_006723317.1:c.11716A>G	XP_006723380.1:p.Ile3906Val
XM_006723319.1:c.11701A>G	XP_006723382.1:p.Ile3901Val
XM_011527204.1:c.11731A>G	XP_011525506.1:p.Ile3911Val
XM_011527205.1:c.11734A>G	XP_011525507.1:p.Ile3912Val
XM_006723317.2:c.11716A>G	XP_006723380.1:p.Ile3906Val
XM_006723319.2:c.11701A>G	XP_006723382.1:p.Ile3901Val
XM_011527205.2:c.11734A>G	XP_011525507.1:p.Ile3912Val
NM_000540.3:c.11734A>G MANE Select	NP_000531.2:p.Ile3912Val
NM_001042723.2:c.11719A>G	NP_001036188.1:p.Ile3907Val