Canonical Allele Identifier: CA2335084724

Gene: RYR1

Linked Data

• dbSNP Id: rs1228854800
• gnomAD v4: 19-38565196-ACGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565206_38565208del , CM000681.2:g.38565206_38565208del	GRCh38
NC_000019.9:g.39055846_39055848del , CM000681.1:g.39055846_39055848del	GRCh37
NC_000019.8:g.43747686_43747688del	NCBI36
NG_008866.1:g.136507_136509del , LRG_766:g.136507_136509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1282_1284del
ENST00000689936.1:c.1264_1266del
ENST00000359596.8:c.12872_12874del MANE Select	ENSP00000352608.2:p.Ala4291del
ENST00000355481.8:c.12857_12859del	ENSP00000347667.3:p.Ala4286del
ENST00000359596.7:c.12872_12874del	ENSP00000352608.2:p.Ala4291del
ENST00000360985.7:c.12854_12856del	ENSP00000354254.4:p.Ala4285del
ENST00000594335.5:c.6241_6243del
NM_000540.2:c.12872_12874del , LRG_766t1:c.12872_12874del	NP_000531.2:p.Ala4291del
NM_001042723.1:c.12857_12859del	NP_001036188.1:p.Ala4286del
XM_006723317.1:c.12854_12856del	XP_006723380.1:p.Ala4285del
XM_006723319.1:c.12839_12841del	XP_006723382.1:p.Ala4280del
XM_011527204.1:c.12869_12871del	XP_011525506.1:p.Ala4290del
XM_011527205.1:c.12872_12874del	XP_011525507.1:p.Ala4291del
XM_006723317.2:c.12854_12856del	XP_006723380.1:p.Ala4285del
XM_006723319.2:c.12839_12841del	XP_006723382.1:p.Ala4280del
XM_011527205.2:c.12872_12874del	XP_011525507.1:p.Ala4291del
NM_000540.3:c.12872_12874del MANE Select	NP_000531.2:p.Ala4291del
NM_001042723.2:c.12857_12859del	NP_001036188.1:p.Ala4286del