Canonical Allele Identifier: CA507242574

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2896020
• ClinVar RCV Id: RCV003756801 ; RCV004005846
• MyVariant Identifiers: chr19:g.39034416C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543776C>G , CM000681.2:g.38543776C>G	GRCh38
NC_000019.9:g.39034416C>G , CM000681.1:g.39034416C>G	GRCh37
NC_000019.8:g.43726256C>G	NCBI36
NG_008866.1:g.115077C>G , LRG_766:g.115077C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.323C>G
ENST00000689936.1:c.305C>G
ENST00000359596.8:c.11913C>G MANE Select	ENSP00000352608.2:p.Pro3971=
ENST00000355481.8:c.11898C>G	ENSP00000347667.3:p.Pro3966=
ENST00000359596.7:c.11913C>G	ENSP00000352608.2:p.Pro3971=
ENST00000360985.7:c.11895C>G	ENSP00000354254.4:p.Pro3965=
ENST00000593322.1:c.522C>G
ENST00000594335.5:c.5282C>G
NM_000540.2:c.11913C>G , LRG_766t1:c.11913C>G	NP_000531.2:p.Pro3971=
NM_001042723.1:c.11898C>G	NP_001036188.1:p.Pro3966=
XM_006723317.1:c.11895C>G	XP_006723380.1:p.Pro3965=
XM_006723319.1:c.11880C>G	XP_006723382.1:p.Pro3960=
XM_011527204.1:c.11910C>G	XP_011525506.1:p.Pro3970=
XM_011527205.1:c.11913C>G	XP_011525507.1:p.Pro3971=
XM_006723317.2:c.11895C>G	XP_006723380.1:p.Pro3965=
XM_006723319.2:c.11880C>G	XP_006723382.1:p.Pro3960=
XM_011527205.2:c.11913C>G	XP_011525507.1:p.Pro3971=
NM_000540.3:c.11913C>G MANE Select	NP_000531.2:p.Pro3971=
NM_001042723.2:c.11898C>G	NP_001036188.1:p.Pro3966=