Canonical Allele Identifier: CA405670846

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39055627T>G (hg19) ; chr19:g.38564987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38564987T>G , CM000681.2:g.38564987T>G	GRCh38
NC_000019.9:g.39055627T>G , CM000681.1:g.39055627T>G	GRCh37
NC_000019.8:g.43747467T>G	NCBI36
NG_008866.1:g.136288T>G , LRG_766:g.136288T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1063T>G
ENST00000689936.1:c.1045T>G
ENST00000359596.8:c.12653T>G MANE Select	ENSP00000352608.2:p.Phe4218Cys
ENST00000355481.8:c.12638T>G	ENSP00000347667.3:p.Phe4213Cys
ENST00000359596.7:c.12653T>G	ENSP00000352608.2:p.Phe4218Cys
ENST00000360985.7:c.12635T>G	ENSP00000354254.4:p.Phe4212Cys
ENST00000594335.5:c.6022T>G
NM_000540.2:c.12653T>G , LRG_766t1:c.12653T>G	NP_000531.2:p.Phe4218Cys
NM_001042723.1:c.12638T>G	NP_001036188.1:p.Phe4213Cys
XM_006723317.1:c.12635T>G	XP_006723380.1:p.Phe4212Cys
XM_006723319.1:c.12620T>G	XP_006723382.1:p.Phe4207Cys
XM_011527204.1:c.12650T>G	XP_011525506.1:p.Phe4217Cys
XM_011527205.1:c.12653T>G	XP_011525507.1:p.Phe4218Cys
XM_006723317.2:c.12635T>G	XP_006723380.1:p.Phe4212Cys
XM_006723319.2:c.12620T>G	XP_006723382.1:p.Phe4207Cys
XM_011527205.2:c.12653T>G	XP_011525507.1:p.Phe4218Cys
NM_000540.3:c.12653T>G MANE Select	NP_000531.2:p.Phe4218Cys
NM_001042723.2:c.12638T>G	NP_001036188.1:p.Phe4213Cys