Canonical Allele Identifier: CA405690302

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590470
• ClinVar RCV Id: RCV000721397
• dbSNP Id: rs118192170
• MyVariant Identifiers: chr19:g.39075629T>A (hg19) ; chr19:g.38584989T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584989T>A , CM000681.2:g.38584989T>A	GRCh38
NC_000019.9:g.39075629T>A , CM000681.1:g.39075629T>A	GRCh37
NC_000019.8:g.43767469T>A	NCBI36
NG_008866.1:g.156290T>A , LRG_766:g.156290T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1629T>A
ENST00000688602.1:c.3026T>A
ENST00000689936.1:c.2998T>A
ENST00000692547.1:n.86T>A
ENST00000359596.8:c.14693T>A MANE Select	ENSP00000352608.2:p.Ile4898Asn
ENST00000355481.8:c.14678T>A	ENSP00000347667.3:p.Ile4893Asn
ENST00000359596.7:c.14693T>A	ENSP00000352608.2:p.Ile4898Asn
ENST00000360985.7:c.14675T>A	ENSP00000354254.4:p.Ile4892Asn
NM_000540.2:c.14693T>A , LRG_766t1:c.14693T>A	NP_000531.2:p.Ile4898Asn
NM_001042723.1:c.14678T>A	NP_001036188.1:p.Ile4893Asn
XM_006723317.1:c.14675T>A	XP_006723380.1:p.Ile4892Asn
XM_006723319.1:c.14660T>A	XP_006723382.1:p.Ile4887Asn
XM_011527204.1:c.14690T>A	XP_011525506.1:p.Ile4897Asn
XM_011527205.1:c.14606T>A	XP_011525507.1:p.Ile4869Asn
XM_006723317.2:c.14675T>A	XP_006723380.1:p.Ile4892Asn
XM_006723319.2:c.14660T>A	XP_006723382.1:p.Ile4887Asn
XM_011527205.2:c.14606T>A	XP_011525507.1:p.Ile4869Asn
NM_000540.3:c.14693T>A MANE Select	NP_000531.2:p.Ile4898Asn
NM_001042723.2:c.14678T>A	NP_001036188.1:p.Ile4893Asn