Canonical Allele Identifier: CA2576772106

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565521-C-CGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565530_38565534dup , CM000681.2:g.38565530_38565534dup	GRCh38
NC_000019.9:g.39056170_39056174dup , CM000681.1:g.39056170_39056174dup	GRCh37
NC_000019.8:g.43748010_43748014dup	NCBI36
NG_008866.1:g.136831_136835dup , LRG_766:g.136831_136835dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.132_136dup
ENST00000688602.1:c.1606_1610dup
ENST00000689936.1:c.1588_1592dup
ENST00000359596.8:c.13196_13200dup MANE Select	ENSP00000352608.2:p.Gly4401ArgfsTer?
ENST00000355481.8:c.13181_13185dup	ENSP00000347667.3:p.Gly4396ArgfsTer?
ENST00000359596.7:c.13196_13200dup	ENSP00000352608.2:p.Gly4401ArgfsTer?
ENST00000360985.7:c.13178_13182dup	ENSP00000354254.4:p.Gly4395ArgfsTer?
NM_000540.2:c.13196_13200dup , LRG_766t1:c.13196_13200dup	NP_000531.2:p.Gly4401ArgfsTer?
NM_001042723.1:c.13181_13185dup	NP_001036188.1:p.Gly4396ArgfsTer?
XM_006723317.1:c.13178_13182dup	XP_006723380.1:p.Gly4395ArgfsTer?
XM_006723319.1:c.13163_13167dup	XP_006723382.1:p.Gly4390ArgfsTer?
XM_011527204.1:c.13193_13197dup	XP_011525506.1:p.Gly4400ArgfsTer?
XM_011527205.1:c.13196_13200dup	XP_011525507.1:p.Gly4401ArgfsTer?
XM_006723317.2:c.13178_13182dup	XP_006723380.1:p.Gly4395ArgfsTer?
XM_006723319.2:c.13163_13167dup	XP_006723382.1:p.Gly4390ArgfsTer?
XM_011527205.2:c.13196_13200dup	XP_011525507.1:p.Gly4401ArgfsTer?
NM_000540.3:c.13196_13200dup MANE Select	NP_000531.2:p.Gly4401ArgfsTer?
NM_001042723.2:c.13181_13185dup	NP_001036188.1:p.Gly4396ArgfsTer?