Canonical Allele Identifier: CA405649687

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2435500
• ClinVar RCV Id: RCV003130430
• gnomAD v4: 19-38528603-C-T
• MyVariant Identifiers: chr19:g.39019243C>T (hg19) ; chr19:g.38528603C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38528603C>T , CM000681.2:g.38528603C>T	GRCh38
NC_000019.9:g.39019243C>T , CM000681.1:g.39019243C>T	GRCh37
NC_000019.8:g.43711083C>T	NCBI36
NG_008866.1:g.99904C>T , LRG_766:g.99904C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.10881C>T	ENSP00000471601.2:n.10881C>T
ENST00000359596.8:c.10942C>T MANE Select	ENSP00000352608.2:p.Arg3648Trp
ENST00000355481.8:c.10927C>T	ENSP00000347667.3:p.Arg3643Trp
ENST00000359596.7:c.10942C>T	ENSP00000352608.2:p.Arg3648Trp
ENST00000360985.7:c.10924C>T	ENSP00000354254.4:p.Arg3642Trp
ENST00000594335.5:c.4329C>T
ENST00000599547.5:c.1749C>T
ENST00000601514.5:c.223C>T	ENSP00000472497.1:p.Arg75Trp
NM_000540.2:c.10942C>T , LRG_766t1:c.10942C>T	NP_000531.2:p.Arg3648Trp
NM_001042723.1:c.10927C>T	NP_001036188.1:p.Arg3643Trp
XM_006723317.1:c.10942C>T	XP_006723380.1:p.Arg3648Trp
XM_006723319.1:c.10927C>T	XP_006723382.1:p.Arg3643Trp
XM_011527204.1:c.10939C>T	XP_011525506.1:p.Arg3647Trp
XM_011527205.1:c.10942C>T	XP_011525507.1:p.Arg3648Trp
XM_006723317.2:c.10942C>T	XP_006723380.1:p.Arg3648Trp
XM_006723319.2:c.10927C>T	XP_006723382.1:p.Arg3643Trp
XM_011527205.2:c.10942C>T	XP_011525507.1:p.Arg3648Trp
NM_000540.3:c.10942C>T MANE Select	NP_000531.2:p.Arg3648Trp
NM_001042723.2:c.10927C>T	NP_001036188.1:p.Arg3643Trp