Canonical Allele Identifier: CA882042113

Gene: RYR1

Linked Data

• dbSNP Id: rs1242843532
• gnomAD v3: 19-38455440-T-TC
• gnomAD v4: 19-38455440-T-TC
• MyVariant Identifiers: chr19:g.38946080_38946081insC (hg19) ; chr19:g.38455440_38455441insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38455446dup , CM000681.2:g.38455446dup	GRCh38
NC_000019.9:g.38946086dup , CM000681.1:g.38946086dup	GRCh37
NC_000019.8:g.43637926dup	NCBI36
NG_008866.1:g.26747dup , LRG_766:g.26747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1577-5dup	ENSP00000471601.2:n.1577-5dup
ENST00000359596.8:c.1577-5dup MANE Select	ENSP00000352608.2:n.1577-5dup
ENST00000355481.8:c.1577-5dup	ENSP00000347667.3:n.1577-5dup
ENST00000359596.7:c.1577-5dup	ENSP00000352608.2:n.1577-5dup
ENST00000360985.7:c.1577-5dup	ENSP00000354254.4:n.1577-5dup
NM_000540.2:c.1577-5dup , LRG_766t1:c.1577-5dup	NP_000531.2:n.1577-5dup
NM_001042723.1:c.1577-5dup	NP_001036188.1:n.1577-5dup
XM_006723317.1:c.1577-5dup	XP_006723380.1:n.1577-5dup
XM_006723319.1:c.1577-5dup	XP_006723382.1:n.1577-5dup
XM_011527204.1:c.1574-5dup	XP_011525506.1:n.1574-5dup
XM_011527205.1:c.1577-5dup	XP_011525507.1:n.1577-5dup
XM_006723317.2:c.1577-5dup	XP_006723380.1:n.1577-5dup
XM_006723319.2:c.1577-5dup	XP_006723382.1:n.1577-5dup
XM_011527205.2:c.1577-5dup	XP_011525507.1:n.1577-5dup
XR_001753735.1:n.1660-5dup
NM_000540.3:c.1577-5dup MANE Select	NP_000531.2:n.1577-5dup
NM_001042723.2:c.1577-5dup	NP_001036188.1:n.1577-5dup