Canonical Allele Identifier: CA059340

Gene: RYR1

Linked Data

• dbSNP Id: rs767810667
• ExAC: 19:39055662 A / G
• gnomAD v2: 19-39055662-A-G
• gnomAD v4: 19-38565022-A-G
• MyVariant Identifiers: chr19:g.39055662A>G (hg19) ; chr19:g.38565022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565022A>G , CM000681.2:g.38565022A>G	GRCh38
NC_000019.9:g.39055662A>G , CM000681.1:g.39055662A>G	GRCh37
NC_000019.8:g.43747502A>G	NCBI36
NG_008866.1:g.136323A>G , LRG_766:g.136323A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1098A>G
ENST00000689936.1:c.1080A>G
ENST00000359596.8:c.12688A>G MANE Select	ENSP00000352608.2:p.Met4230Val
ENST00000355481.8:c.12673A>G	ENSP00000347667.3:p.Met4225Val
ENST00000359596.7:c.12688A>G	ENSP00000352608.2:p.Met4230Val
ENST00000360985.7:c.12670A>G	ENSP00000354254.4:p.Met4224Val
ENST00000594335.5:c.6057A>G
NM_000540.2:c.12688A>G , LRG_766t1:c.12688A>G	NP_000531.2:p.Met4230Val
NM_001042723.1:c.12673A>G	NP_001036188.1:p.Met4225Val
XM_006723317.1:c.12670A>G	XP_006723380.1:p.Met4224Val
XM_006723319.1:c.12655A>G	XP_006723382.1:p.Met4219Val
XM_011527204.1:c.12685A>G	XP_011525506.1:p.Met4229Val
XM_011527205.1:c.12688A>G	XP_011525507.1:p.Met4230Val
XM_006723317.2:c.12670A>G	XP_006723380.1:p.Met4224Val
XM_006723319.2:c.12655A>G	XP_006723382.1:p.Met4219Val
XM_011527205.2:c.12688A>G	XP_011525507.1:p.Met4230Val
NM_000540.3:c.12688A>G MANE Select	NP_000531.2:p.Met4230Val
NM_001042723.2:c.12673A>G	NP_001036188.1:p.Met4225Val