Canonical Allele Identifier: CA073395

Gene: RYR1

Linked Data

• dbSNP Id: rs747707828
• ExAC: 19:39002809 A / T
• gnomAD v2: 19-39002809-A-T
• gnomAD v4: 19-38512169-A-T
• MyVariant Identifiers: chr19:g.39002809A>T (hg19) ; chr19:g.38512169A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512169A>T , CM000681.2:g.38512169A>T	GRCh38
NC_000019.9:g.39002809A>T , CM000681.1:g.39002809A>T	GRCh37
NC_000019.8:g.43694649A>T	NCBI36
NG_008866.1:g.83470A>T , LRG_766:g.83470A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9173-76A>T	ENSP00000471601.2:n.9173-76A>T
ENST00000359596.8:c.9233+37A>T MANE Select	ENSP00000352608.2:n.9233+37A>T
ENST00000355481.8:c.9233+37A>T	ENSP00000347667.3:n.9233+37A>T
ENST00000359596.7:c.9233+37A>T	ENSP00000352608.2:n.9233+37A>T
ENST00000360985.7:c.9230+37A>T	ENSP00000354254.4:n.9230+37A>T
ENST00000594335.5:c.2635+37A>T
ENST00000599547.5:c.41-76A>T
NM_000540.2:c.9233+37A>T , LRG_766t1:c.9233+37A>T	NP_000531.2:n.9233+37A>T
NM_001042723.1:c.9233+37A>T	NP_001036188.1:n.9233+37A>T
XM_006723317.1:c.9233+37A>T	XP_006723380.1:n.9233+37A>T
XM_006723319.1:c.9233+37A>T	XP_006723382.1:n.9233+37A>T
XM_011527204.1:c.9230+37A>T	XP_011525506.1:n.9230+37A>T
XM_011527205.1:c.9233+37A>T	XP_011525507.1:n.9233+37A>T
XM_006723317.2:c.9233+37A>T	XP_006723380.1:n.9233+37A>T
XM_006723319.2:c.9233+37A>T	XP_006723382.1:n.9233+37A>T
XM_011527205.2:c.9233+37A>T	XP_011525507.1:n.9233+37A>T
XR_001753735.1:n.9266+37A>T
NM_000540.3:c.9233+37A>T MANE Select	NP_000531.2:n.9233+37A>T
NM_001042723.2:c.9233+37A>T	NP_001036188.1:n.9233+37A>T