Canonical Allele Identifier: CA308121922

Gene: RYR1

Linked Data

• ClinVar Variation Id: 452823
• ClinVar RCV Id: RCV000721377 ; RCV001853690
• dbSNP Id: rs933599635
• gnomAD v4: 19-38580376-A-T
• MyVariant Identifiers: chr19:g.39071016A>T (hg19) ; chr19:g.38580376A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580376A>T , CM000681.2:g.38580376A>T	GRCh38
NC_000019.9:g.39071016A>T , CM000681.1:g.39071016A>T	GRCh37
NC_000019.8:g.43762856A>T	NCBI36
NG_008866.1:g.151677A>T , LRG_766:g.151677A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1454A>T
ENST00000688602.1:c.2851A>T
ENST00000689936.1:c.2823A>T
ENST00000359596.8:c.14518A>T MANE Select	ENSP00000352608.2:p.Met4840Leu
ENST00000355481.8:c.14503A>T	ENSP00000347667.3:p.Met4835Leu
ENST00000359596.7:c.14518A>T	ENSP00000352608.2:p.Met4840Leu
ENST00000360985.7:c.14500A>T	ENSP00000354254.4:p.Met4834Leu
NM_000540.2:c.14518A>T , LRG_766t1:c.14518A>T	NP_000531.2:p.Met4840Leu
NM_001042723.1:c.14503A>T	NP_001036188.1:p.Met4835Leu
XM_006723317.1:c.14500A>T	XP_006723380.1:p.Met4834Leu
XM_006723319.1:c.14485A>T	XP_006723382.1:p.Met4829Leu
XM_011527204.1:c.14515A>T	XP_011525506.1:p.Met4839Leu
XM_011527205.1:c.14431A>T	XP_011525507.1:p.Met4811Leu
XM_006723317.2:c.14500A>T	XP_006723380.1:p.Met4834Leu
XM_006723319.2:c.14485A>T	XP_006723382.1:p.Met4829Leu
XM_011527205.2:c.14431A>T	XP_011525507.1:p.Met4811Leu
NM_000540.3:c.14518A>T MANE Select	NP_000531.2:p.Met4840Leu
NM_001042723.2:c.14503A>T	NP_001036188.1:p.Met4835Leu