Canonical Allele Identifier: CA2584910042

Gene: RYR1

Linked Data

• gnomAD v4: 19-38572257-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572258dup , CM000681.2:g.38572258dup	GRCh38
NC_000019.9:g.39062898dup , CM000681.1:g.39062898dup	GRCh37
NC_000019.8:g.43754738dup	NCBI36
NG_008866.1:g.143559dup , LRG_766:g.143559dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.922dup
ENST00000688602.1:c.2319dup
ENST00000689936.1:c.2291dup
ENST00000359596.8:c.13986dup MANE Select	ENSP00000352608.2:p.Asn4663Ter
ENST00000355481.8:c.13971dup	ENSP00000347667.3:p.Asn4658Ter
ENST00000359596.7:c.13986dup	ENSP00000352608.2:p.Asn4663Ter
ENST00000360985.7:c.13968dup	ENSP00000354254.4:p.Asn4657Ter
NM_000540.2:c.13986dup , LRG_766t1:c.13986dup	NP_000531.2:p.Asn4663Ter
NM_001042723.1:c.13971dup	NP_001036188.1:p.Asn4658Ter
XM_006723317.1:c.13968dup	XP_006723380.1:p.Asn4657Ter
XM_006723319.1:c.13953dup	XP_006723382.1:p.Asn4652Ter
XM_011527204.1:c.13983dup	XP_011525506.1:p.Asn4662Ter
XM_011527205.1:c.13899dup	XP_011525507.1:p.Asn4634Ter
XM_006723317.2:c.13968dup	XP_006723380.1:p.Asn4657Ter
XM_006723319.2:c.13953dup	XP_006723382.1:p.Asn4652Ter
XM_011527205.2:c.13899dup	XP_011525507.1:p.Asn4634Ter
NM_000540.3:c.13986dup MANE Select	NP_000531.2:p.Asn4663Ter
NM_001042723.2:c.13971dup	NP_001036188.1:p.Asn4658Ter