Canonical Allele Identifier: CA2584897732

Gene: RYR1

Linked Data

• gnomAD v4: 19-38483262-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38483262T>C , CM000681.2:g.38483262T>C	GRCh38
NC_000019.9:g.38973902T>C , CM000681.1:g.38973902T>C	GRCh37
NC_000019.8:g.43665742T>C	NCBI36
NG_008866.1:g.54563T>C , LRG_766:g.54563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.4708-28T>C	ENSP00000471601.2:n.4708-28T>C
ENST00000359596.8:c.4708-28T>C MANE Select	ENSP00000352608.2:n.4708-28T>C
ENST00000355481.8:c.4708-28T>C	ENSP00000347667.3:n.4708-28T>C
ENST00000359596.7:c.4708-28T>C	ENSP00000352608.2:n.4708-28T>C
ENST00000360985.7:c.4705-28T>C	ENSP00000354254.4:n.4705-28T>C
NM_000540.2:c.4708-28T>C , LRG_766t1:c.4708-28T>C	NP_000531.2:n.4708-28T>C
NM_001042723.1:c.4708-28T>C	NP_001036188.1:n.4708-28T>C
XM_006723317.1:c.4708-28T>C	XP_006723380.1:n.4708-28T>C
XM_006723319.1:c.4708-28T>C	XP_006723382.1:n.4708-28T>C
XM_011527204.1:c.4705-28T>C	XP_011525506.1:n.4705-28T>C
XM_011527205.1:c.4708-28T>C	XP_011525507.1:n.4708-28T>C
XM_006723317.2:c.4708-28T>C	XP_006723380.1:n.4708-28T>C
XM_006723319.2:c.4708-28T>C	XP_006723382.1:n.4708-28T>C
XM_011527205.2:c.4708-28T>C	XP_011525507.1:n.4708-28T>C
XR_001753735.1:n.4791-28T>C
NM_000540.3:c.4708-28T>C MANE Select	NP_000531.2:n.4708-28T>C
NM_001042723.2:c.4708-28T>C	NP_001036188.1:n.4708-28T>C