Canonical Allele Identifier: CA507355838

Gene: RYR1

Linked Data

• dbSNP Id: rs1271736045
• gnomAD v2: 19-39056020-GGGC-G
• gnomAD v4: 19-38565380-GGGC-G
• MyVariant Identifiers: chr19:g.39056021_39056023del (hg19) ; chr19:g.38565381_38565383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565389_38565391del , CM000681.2:g.38565389_38565391del	GRCh38
NC_000019.9:g.39056029_39056031del , CM000681.1:g.39056029_39056031del	GRCh37
NC_000019.8:g.43747869_43747871del	NCBI36
NG_008866.1:g.136690_136692del , LRG_766:g.136690_136692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1465_1467del
ENST00000689936.1:c.1447_1449del
ENST00000359596.8:c.13055_13057del MANE Select	ENSP00000352608.2:p.Ala4352del
ENST00000355481.8:c.13040_13042del	ENSP00000347667.3:p.Ala4347del
ENST00000359596.7:c.13055_13057del	ENSP00000352608.2:p.Ala4352del
ENST00000360985.7:c.13037_13039del	ENSP00000354254.4:p.Ala4346del
NM_000540.2:c.13055_13057del , LRG_766t1:c.13055_13057del	NP_000531.2:p.Ala4352del
NM_001042723.1:c.13040_13042del	NP_001036188.1:p.Ala4347del
XM_006723317.1:c.13037_13039del	XP_006723380.1:p.Ala4346del
XM_006723319.1:c.13022_13024del	XP_006723382.1:p.Ala4341del
XM_011527204.1:c.13052_13054del	XP_011525506.1:p.Ala4351del
XM_011527205.1:c.13055_13057del	XP_011525507.1:p.Ala4352del
XM_006723317.2:c.13037_13039del	XP_006723380.1:p.Ala4346del
XM_006723319.2:c.13022_13024del	XP_006723382.1:p.Ala4341del
XM_011527205.2:c.13055_13057del	XP_011525507.1:p.Ala4352del
NM_000540.3:c.13055_13057del MANE Select	NP_000531.2:p.Ala4352del
NM_001042723.2:c.13040_13042del	NP_001036188.1:p.Ala4347del