Canonical Allele Identifier: CA405674490

Gene: RYR1

Linked Data

• dbSNP Id: rs1434643889
• gnomAD v3: 19-38565561-C-A
• gnomAD v4: 19-38565561-C-A
• MyVariant Identifiers: chr19:g.39056201C>A (hg19) ; chr19:g.38565561C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565561C>A , CM000681.2:g.38565561C>A	GRCh38
NC_000019.9:g.39056201C>A , CM000681.1:g.39056201C>A	GRCh37
NC_000019.8:g.43748041C>A	NCBI36
NG_008866.1:g.136862C>A , LRG_766:g.136862C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.163C>A
ENST00000688602.1:c.1637C>A
ENST00000689936.1:c.1619C>A
ENST00000359596.8:c.13227C>A MANE Select	ENSP00000352608.2:p.Ser4409Arg
ENST00000355481.8:c.13212C>A	ENSP00000347667.3:p.Ser4404Arg
ENST00000359596.7:c.13227C>A	ENSP00000352608.2:p.Ser4409Arg
ENST00000360985.7:c.13209C>A	ENSP00000354254.4:p.Ser4403Arg
NM_000540.2:c.13227C>A , LRG_766t1:c.13227C>A	NP_000531.2:p.Ser4409Arg
NM_001042723.1:c.13212C>A	NP_001036188.1:p.Ser4404Arg
XM_006723317.1:c.13209C>A	XP_006723380.1:p.Ser4403Arg
XM_006723319.1:c.13194C>A	XP_006723382.1:p.Ser4398Arg
XM_011527204.1:c.13224C>A	XP_011525506.1:p.Ser4408Arg
XM_011527205.1:c.13227C>A	XP_011525507.1:p.Ser4409Arg
XM_006723317.2:c.13209C>A	XP_006723380.1:p.Ser4403Arg
XM_006723319.2:c.13194C>A	XP_006723382.1:p.Ser4398Arg
XM_011527205.2:c.13227C>A	XP_011525507.1:p.Ser4409Arg
NM_000540.3:c.13227C>A MANE Select	NP_000531.2:p.Ser4409Arg
NM_001042723.2:c.13212C>A	NP_001036188.1:p.Ser4404Arg