Canonical Allele Identifier: CA405682647

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3071635
• ClinVar RCV Id: RCV004016129
• gnomAD v4: 19-38573306-C-G
• MyVariant Identifiers: chr19:g.39063946C>G (hg19) ; chr19:g.38573306C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573306C>G , CM000681.2:g.38573306C>G	GRCh38
NC_000019.9:g.39063946C>G , CM000681.1:g.39063946C>G	GRCh37
NC_000019.8:g.43755786C>G	NCBI36
NG_008866.1:g.144607C>G , LRG_766:g.144607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1064C>G
ENST00000688602.1:c.2461C>G
ENST00000689936.1:c.2433C>G
ENST00000359596.8:c.14128C>G MANE Select	ENSP00000352608.2:p.Pro4710Ala
ENST00000355481.8:c.14113C>G	ENSP00000347667.3:p.Pro4705Ala
ENST00000359596.7:c.14128C>G	ENSP00000352608.2:p.Pro4710Ala
ENST00000360985.7:c.14110C>G	ENSP00000354254.4:p.Pro4704Ala
NM_000540.2:c.14128C>G , LRG_766t1:c.14128C>G	NP_000531.2:p.Pro4710Ala
NM_001042723.1:c.14113C>G	NP_001036188.1:p.Pro4705Ala
XM_006723317.1:c.14110C>G	XP_006723380.1:p.Pro4704Ala
XM_006723319.1:c.14095C>G	XP_006723382.1:p.Pro4699Ala
XM_011527204.1:c.14125C>G	XP_011525506.1:p.Pro4709Ala
XM_011527205.1:c.14041C>G	XP_011525507.1:p.Pro4681Ala
XM_006723317.2:c.14110C>G	XP_006723380.1:p.Pro4704Ala
XM_006723319.2:c.14095C>G	XP_006723382.1:p.Pro4699Ala
XM_011527205.2:c.14041C>G	XP_011525507.1:p.Pro4681Ala
NM_000540.3:c.14128C>G MANE Select	NP_000531.2:p.Pro4710Ala
NM_001042723.2:c.14113C>G	NP_001036188.1:p.Pro4705Ala