Canonical Allele Identifier: CA2576827591

Gene: RYR1

Linked Data

• gnomAD v4: 19-38586222-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586228dup , CM000681.2:g.38586228dup	GRCh38
NC_000019.9:g.39076868dup , CM000681.1:g.39076868dup	GRCh37
NC_000019.8:g.43768708dup	NCBI36
NG_008866.1:g.157529dup , LRG_766:g.157529dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1905+37dup
ENST00000688602.1:c.3302+37dup
ENST00000689936.1:c.3274+37dup
ENST00000692547.1:n.362+37dup
ENST00000359596.8:c.14969+37dup MANE Select	ENSP00000352608.2:n.14969+37dup
ENST00000355481.8:c.14954+37dup	ENSP00000347667.3:n.14954+37dup
ENST00000359596.7:c.14969+37dup	ENSP00000352608.2:n.14969+37dup
ENST00000360985.7:c.14951+37dup	ENSP00000354254.4:n.14951+37dup
NM_000540.2:c.14969+37dup , LRG_766t1:c.14969+37dup	NP_000531.2:n.14969+37dup
NM_001042723.1:c.14954+37dup	NP_001036188.1:n.14954+37dup
XM_006723317.1:c.14951+37dup	XP_006723380.1:n.14951+37dup
XM_006723319.1:c.14936+37dup	XP_006723382.1:n.14936+37dup
XM_011527204.1:c.14966+37dup	XP_011525506.1:n.14966+37dup
XM_011527205.1:c.14882+37dup	XP_011525507.1:n.14882+37dup
XM_006723317.2:c.14951+37dup	XP_006723380.1:n.14951+37dup
XM_006723319.2:c.14936+37dup	XP_006723382.1:n.14936+37dup
XM_011527205.2:c.14882+37dup	XP_011525507.1:n.14882+37dup
NM_000540.3:c.14969+37dup MANE Select	NP_000531.2:n.14969+37dup
NM_001042723.2:c.14954+37dup	NP_001036188.1:n.14954+37dup