Canonical Allele Identifier: CA507354784

Gene: RYR1

Linked Data

• dbSNP Id: rs1166872848
• gnomAD v2: 19-39034070-C-T
• gnomAD v4: 19-38543430-C-T
• MyVariant Identifiers: chr19:g.39034070C>T (hg19) ; chr19:g.38543430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543430C>T , CM000681.2:g.38543430C>T	GRCh38
NC_000019.9:g.39034070C>T , CM000681.1:g.39034070C>T	GRCh37
NC_000019.8:g.43725910C>T	NCBI36
NG_008866.1:g.114731C>T , LRG_766:g.114731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.183C>T
ENST00000689936.1:c.165C>T
ENST00000359596.8:c.11773C>T MANE Select	ENSP00000352608.2:p.Leu3925=
ENST00000355481.8:c.11758C>T	ENSP00000347667.3:p.Leu3920=
ENST00000359596.7:c.11773C>T	ENSP00000352608.2:p.Leu3925=
ENST00000360985.7:c.11755C>T	ENSP00000354254.4:p.Leu3919=
ENST00000593322.1:c.382C>T
ENST00000594335.5:c.5142C>T
NM_000540.2:c.11773C>T , LRG_766t1:c.11773C>T	NP_000531.2:p.Leu3925=
NM_001042723.1:c.11758C>T	NP_001036188.1:p.Leu3920=
XM_006723317.1:c.11755C>T	XP_006723380.1:p.Leu3919=
XM_006723319.1:c.11740C>T	XP_006723382.1:p.Leu3914=
XM_011527204.1:c.11770C>T	XP_011525506.1:p.Leu3924=
XM_011527205.1:c.11773C>T	XP_011525507.1:p.Leu3925=
XM_006723317.2:c.11755C>T	XP_006723380.1:p.Leu3919=
XM_006723319.2:c.11740C>T	XP_006723382.1:p.Leu3914=
XM_011527205.2:c.11773C>T	XP_011525507.1:p.Leu3925=
NM_000540.3:c.11773C>T MANE Select	NP_000531.2:p.Leu3925=
NM_001042723.2:c.11758C>T	NP_001036188.1:p.Leu3920=