Canonical Allele Identifier: CA024074

Gene: RYR1

Linked Data

• ClinVar Variation Id: 66002
• ClinVar RCV Id: RCV000056249 ; RCV000119485
• dbSNP Id: rs118192132
• MyVariant Identifiers: chr19:g.39062803T>A (hg19) ; chr19:g.38572163T>A (hg38)
• PubMed: PMID:16621918 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572163T>A , CM000681.2:g.38572163T>A	GRCh38
NC_000019.9:g.39062803T>A , CM000681.1:g.39062803T>A	GRCh37
NC_000019.8:g.43754643T>A	NCBI36
NG_008866.1:g.143464T>A , LRG_766:g.143464T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.827T>A
ENST00000688602.1:c.2224T>A
ENST00000689936.1:c.2196T>A
ENST00000359596.8:c.13891T>A MANE Select	ENSP00000352608.2:p.Tyr4631Asn
ENST00000355481.8:c.13876T>A	ENSP00000347667.3:p.Tyr4626Asn
ENST00000359596.7:c.13891T>A	ENSP00000352608.2:p.Tyr4631Asn
ENST00000360985.7:c.13873T>A	ENSP00000354254.4:p.Tyr4625Asn
ENST00000593677.1:c.351T>A
NM_000540.2:c.13891T>A , LRG_766t1:c.13891T>A	NP_000531.2:p.Tyr4631Asn
NM_001042723.1:c.13876T>A	NP_001036188.1:p.Tyr4626Asn
XM_006723317.1:c.13873T>A	XP_006723380.1:p.Tyr4625Asn
XM_006723319.1:c.13858T>A	XP_006723382.1:p.Tyr4620Asn
XM_011527204.1:c.13888T>A	XP_011525506.1:p.Tyr4630Asn
XM_011527205.1:c.13804T>A	XP_011525507.1:p.Tyr4602Asn
XM_006723317.2:c.13873T>A	XP_006723380.1:p.Tyr4625Asn
XM_006723319.2:c.13858T>A	XP_006723382.1:p.Tyr4620Asn
XM_011527205.2:c.13804T>A	XP_011525507.1:p.Tyr4602Asn
NM_000540.3:c.13891T>A MANE Select	NP_000531.2:p.Tyr4631Asn
NM_001042723.2:c.13876T>A	NP_001036188.1:p.Tyr4626Asn