Canonical Allele Identifier: CA632878115

Gene: RYR1

Linked Data

• dbSNP Id: rs1188152138
• gnomAD v2: 19-39076750-G-GA
• gnomAD v4: 19-38586110-G-GA
• MyVariant Identifiers: chr19:g.39076750_39076751insA (hg19) ; chr19:g.38586110_38586111insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586112dup , CM000681.2:g.38586112dup	GRCh38
NC_000019.9:g.39076752dup , CM000681.1:g.39076752dup	GRCh37
NC_000019.8:g.43768592dup	NCBI36
NG_008866.1:g.157413dup , LRG_766:g.157413dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1826dup
ENST00000688602.1:c.3223dup
ENST00000689936.1:c.3195dup
ENST00000692547.1:n.283dup
ENST00000359596.8:c.14890dup MANE Select	ENSP00000352608.2:p.Ile4964AsnfsTer4
ENST00000355481.8:c.14875dup	ENSP00000347667.3:p.Ile4959AsnfsTer4
ENST00000359596.7:c.14890dup	ENSP00000352608.2:p.Ile4964AsnfsTer4
ENST00000360985.7:c.14872dup	ENSP00000354254.4:p.Ile4958AsnfsTer4
NM_000540.2:c.14890dup , LRG_766t1:c.14890dup	NP_000531.2:p.Ile4964AsnfsTer4
NM_001042723.1:c.14875dup	NP_001036188.1:p.Ile4959AsnfsTer4
XM_006723317.1:c.14872dup	XP_006723380.1:p.Ile4958AsnfsTer4
XM_006723319.1:c.14857dup	XP_006723382.1:p.Ile4953AsnfsTer4
XM_011527204.1:c.14887dup	XP_011525506.1:p.Ile4963AsnfsTer4
XM_011527205.1:c.14803dup	XP_011525507.1:p.Ile4935AsnfsTer4
XM_006723317.2:c.14872dup	XP_006723380.1:p.Ile4958AsnfsTer4
XM_006723319.2:c.14857dup	XP_006723382.1:p.Ile4953AsnfsTer4
XM_011527205.2:c.14803dup	XP_011525507.1:p.Ile4935AsnfsTer4
NM_000540.3:c.14890dup MANE Select	NP_000531.2:p.Ile4964AsnfsTer4
NM_001042723.2:c.14875dup	NP_001036188.1:p.Ile4959AsnfsTer4