Canonical Allele Identifier: CA405694028

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2412684
• ClinVar RCV Id: RCV002789971
• gnomAD v4: 19-38587339-G-T
• MyVariant Identifiers: chr19:g.39077979G>T (hg19) ; chr19:g.38587339G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587339G>T , CM000681.2:g.38587339G>T	GRCh38
NC_000019.9:g.39077979G>T , CM000681.1:g.39077979G>T	GRCh37
NC_000019.8:g.43769819G>T	NCBI36
NG_008866.1:g.158640G>T , LRG_766:g.158640G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+763G>T
ENST00000688602.1:c.3369G>T
ENST00000689936.1:c.3341G>T
ENST00000692547.1:n.429G>T
ENST00000359596.8:c.15036G>T MANE Select	ENSP00000352608.2:p.Trp5012Cys
ENST00000355481.8:c.15021G>T	ENSP00000347667.3:p.Trp5007Cys
ENST00000359596.7:c.15036G>T	ENSP00000352608.2:p.Trp5012Cys
ENST00000360985.7:c.15018G>T	ENSP00000354254.4:p.Trp5006Cys
NM_000540.2:c.15036G>T , LRG_766t1:c.15036G>T	NP_000531.2:p.Trp5012Cys
NM_001042723.1:c.15021G>T	NP_001036188.1:p.Trp5007Cys
XM_006723317.1:c.15018G>T	XP_006723380.1:p.Trp5006Cys
XM_006723319.1:c.15003G>T	XP_006723382.1:p.Trp5001Cys
XM_011527204.1:c.15033G>T	XP_011525506.1:p.Trp5011Cys
XM_011527205.1:c.14949G>T	XP_011525507.1:p.Trp4983Cys
XM_006723317.2:c.15018G>T	XP_006723380.1:p.Trp5006Cys
XM_006723319.2:c.15003G>T	XP_006723382.1:p.Trp5001Cys
XM_011527205.2:c.14949G>T	XP_011525507.1:p.Trp4983Cys
NM_000540.3:c.15036G>T MANE Select	NP_000531.2:p.Trp5012Cys
NM_001042723.2:c.15021G>T	NP_001036188.1:p.Trp5007Cys