Canonical Allele Identifier: CA10604997

Gene: RYR1

Linked Data

• ClinVar Variation Id: 285088
• ClinVar RCV Id: RCV000306697 ; RCV001228219
• dbSNP Id: rs193922883
• MyVariant Identifiers: chr19:g.39071137T>A (hg19) ; chr19:g.38580497T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580497T>A , CM000681.2:g.38580497T>A	GRCh38
NC_000019.9:g.39071137T>A , CM000681.1:g.39071137T>A	GRCh37
NC_000019.8:g.43762977T>A	NCBI36
NG_008866.1:g.151798T>A , LRG_766:g.151798T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1575T>A
ENST00000688602.1:c.2972T>A
ENST00000689936.1:c.2944T>A
ENST00000359596.8:c.14639T>A MANE Select	ENSP00000352608.2:p.Met4880Lys
ENST00000355481.8:c.14624T>A	ENSP00000347667.3:p.Met4875Lys
ENST00000359596.7:c.14639T>A	ENSP00000352608.2:p.Met4880Lys
ENST00000360985.7:c.14621T>A	ENSP00000354254.4:p.Met4874Lys
NM_000540.2:c.14639T>A , LRG_766t1:c.14639T>A	NP_000531.2:p.Met4880Lys
NM_001042723.1:c.14624T>A	NP_001036188.1:p.Met4875Lys
XM_006723317.1:c.14621T>A	XP_006723380.1:p.Met4874Lys
XM_006723319.1:c.14606T>A	XP_006723382.1:p.Met4869Lys
XM_011527204.1:c.14636T>A	XP_011525506.1:p.Met4879Lys
XM_011527205.1:c.14552T>A	XP_011525507.1:p.Met4851Lys
XM_006723317.2:c.14621T>A	XP_006723380.1:p.Met4874Lys
XM_006723319.2:c.14606T>A	XP_006723382.1:p.Met4869Lys
XM_011527205.2:c.14552T>A	XP_011525507.1:p.Met4851Lys
NM_000540.3:c.14639T>A MANE Select	NP_000531.2:p.Met4880Lys
NM_001042723.2:c.14624T>A	NP_001036188.1:p.Met4875Lys