Canonical Allele Identifier: CA308126717

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2760740
• ClinVar RCV Id: RCV003591571
• dbSNP Id: rs368874586
• gnomAD v3: 19-38586150-C-A
• gnomAD v4: 19-38586150-C-A
• MyVariant Identifiers: chr19:g.39076790C>A (hg19) ; chr19:g.38586150C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586150C>A , CM000681.2:g.38586150C>A	GRCh38
NC_000019.9:g.39076790C>A , CM000681.1:g.39076790C>A	GRCh37
NC_000019.8:g.43768630C>A	NCBI36
NG_008866.1:g.157451C>A , LRG_766:g.157451C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1864C>A
ENST00000688602.1:c.3261C>A
ENST00000689936.1:c.3233C>A
ENST00000692547.1:n.321C>A
ENST00000359596.8:c.14928C>A MANE Select	ENSP00000352608.2:p.Phe4976Leu
ENST00000355481.8:c.14913C>A	ENSP00000347667.3:p.Phe4971Leu
ENST00000359596.7:c.14928C>A	ENSP00000352608.2:p.Phe4976Leu
ENST00000360985.7:c.14910C>A	ENSP00000354254.4:p.Phe4970Leu
NM_000540.2:c.14928C>A , LRG_766t1:c.14928C>A	NP_000531.2:p.Phe4976Leu
NM_001042723.1:c.14913C>A	NP_001036188.1:p.Phe4971Leu
XM_006723317.1:c.14910C>A	XP_006723380.1:p.Phe4970Leu
XM_006723319.1:c.14895C>A	XP_006723382.1:p.Phe4965Leu
XM_011527204.1:c.14925C>A	XP_011525506.1:p.Phe4975Leu
XM_011527205.1:c.14841C>A	XP_011525507.1:p.Phe4947Leu
XM_006723317.2:c.14910C>A	XP_006723380.1:p.Phe4970Leu
XM_006723319.2:c.14895C>A	XP_006723382.1:p.Phe4965Leu
XM_011527205.2:c.14841C>A	XP_011525507.1:p.Phe4947Leu
NM_000540.3:c.14928C>A MANE Select	NP_000531.2:p.Phe4976Leu
NM_001042723.2:c.14913C>A	NP_001036188.1:p.Phe4971Leu