Canonical Allele Identifier: CA308109322

Gene: RYR1

Linked Data

• ClinVar Variation Id: 478177
• ClinVar RCV Id: RCV000721297 ; RCV001082883 ; RCV001131808 ; RCV001131809 ; RCV001131810
• dbSNP Id: rs1003914966
• gnomAD v2: 19-39055854-A-G
• gnomAD v3: 19-38565214-A-G
• gnomAD v4: 19-38565214-A-G
• MyVariant Identifiers: chr19:g.39055854A>G (hg19) ; chr19:g.38565214A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565214A>G , CM000681.2:g.38565214A>G	GRCh38
NC_000019.9:g.39055854A>G , CM000681.1:g.39055854A>G	GRCh37
NC_000019.8:g.43747694A>G	NCBI36
NG_008866.1:g.136515A>G , LRG_766:g.136515A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1290A>G
ENST00000689936.1:c.1272A>G
ENST00000359596.8:c.12880A>G MANE Select	ENSP00000352608.2:p.Thr4294Ala
ENST00000355481.8:c.12865A>G	ENSP00000347667.3:p.Thr4289Ala
ENST00000359596.7:c.12880A>G	ENSP00000352608.2:p.Thr4294Ala
ENST00000360985.7:c.12862A>G	ENSP00000354254.4:p.Thr4288Ala
ENST00000594335.5:c.6249A>G
NM_000540.2:c.12880A>G , LRG_766t1:c.12880A>G	NP_000531.2:p.Thr4294Ala
NM_001042723.1:c.12865A>G	NP_001036188.1:p.Thr4289Ala
XM_006723317.1:c.12862A>G	XP_006723380.1:p.Thr4288Ala
XM_006723319.1:c.12847A>G	XP_006723382.1:p.Thr4283Ala
XM_011527204.1:c.12877A>G	XP_011525506.1:p.Thr4293Ala
XM_011527205.1:c.12880A>G	XP_011525507.1:p.Thr4294Ala
XM_006723317.2:c.12862A>G	XP_006723380.1:p.Thr4288Ala
XM_006723319.2:c.12847A>G	XP_006723382.1:p.Thr4283Ala
XM_011527205.2:c.12880A>G	XP_011525507.1:p.Thr4294Ala
NM_000540.3:c.12880A>G MANE Select	NP_000531.2:p.Thr4294Ala
NM_001042723.2:c.12865A>G	NP_001036188.1:p.Thr4289Ala