Canonical Allele Identifier: CA059048

Gene: RYR1

Linked Data

• ClinVar Variation Id: 842656
• ClinVar RCV Id: RCV001045110
• dbSNP Id: rs776736001
• ExAC: 19:39051993 C / G
• gnomAD v2: 19-39051993-C-G
• gnomAD v3: 19-38561353-C-G
• gnomAD v4: 19-38561353-C-G
• MyVariant Identifiers: chr19:g.39051993C>G (hg19) ; chr19:g.38561353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38561353C>G , CM000681.2:g.38561353C>G	GRCh38
NC_000019.9:g.39051993C>G , CM000681.1:g.39051993C>G	GRCh37
NC_000019.8:g.43743833C>G	NCBI36
NG_008866.1:g.132654C>G , LRG_766:g.132654C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.933C>G
ENST00000689936.1:c.915C>G
ENST00000359596.8:c.12523C>G MANE Select	ENSP00000352608.2:p.Pro4175Ala
ENST00000355481.8:c.12508C>G	ENSP00000347667.3:p.Pro4170Ala
ENST00000359596.7:c.12523C>G	ENSP00000352608.2:p.Pro4175Ala
ENST00000360985.7:c.12505C>G	ENSP00000354254.4:p.Pro4169Ala
ENST00000594335.5:c.5892C>G
NM_000540.2:c.12523C>G , LRG_766t1:c.12523C>G	NP_000531.2:p.Pro4175Ala
NM_001042723.1:c.12508C>G	NP_001036188.1:p.Pro4170Ala
XM_006723317.1:c.12505C>G	XP_006723380.1:p.Pro4169Ala
XM_006723319.1:c.12490C>G	XP_006723382.1:p.Pro4164Ala
XM_011527204.1:c.12520C>G	XP_011525506.1:p.Pro4174Ala
XM_011527205.1:c.12523C>G	XP_011525507.1:p.Pro4175Ala
XM_006723317.2:c.12505C>G	XP_006723380.1:p.Pro4169Ala
XM_006723319.2:c.12490C>G	XP_006723382.1:p.Pro4164Ala
XM_011527205.2:c.12523C>G	XP_011525507.1:p.Pro4175Ala
NM_000540.3:c.12523C>G MANE Select	NP_000531.2:p.Pro4175Ala
NM_001042723.2:c.12508C>G	NP_001036188.1:p.Pro4170Ala