Canonical Allele Identifier: CA405662971

Gene: RYR1

Linked Data

• gnomAD v4: 19-38543853-A-G
• MyVariant Identifiers: chr19:g.39034493A>G (hg19) ; chr19:g.38543853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543853A>G , CM000681.2:g.38543853A>G	GRCh38
NC_000019.9:g.39034493A>G , CM000681.1:g.39034493A>G	GRCh37
NC_000019.8:g.43726333A>G	NCBI36
NG_008866.1:g.115154A>G , LRG_766:g.115154A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.400A>G
ENST00000689936.1:c.382A>G
ENST00000359596.8:c.11990A>G MANE Select	ENSP00000352608.2:p.His3997Arg
ENST00000355481.8:c.11975A>G	ENSP00000347667.3:p.His3992Arg
ENST00000359596.7:c.11990A>G	ENSP00000352608.2:p.His3997Arg
ENST00000360985.7:c.11972A>G	ENSP00000354254.4:p.His3991Arg
ENST00000593322.1:c.599A>G
ENST00000594335.5:c.5359A>G
NM_000540.2:c.11990A>G , LRG_766t1:c.11990A>G	NP_000531.2:p.His3997Arg
NM_001042723.1:c.11975A>G	NP_001036188.1:p.His3992Arg
XM_006723317.1:c.11972A>G	XP_006723380.1:p.His3991Arg
XM_006723319.1:c.11957A>G	XP_006723382.1:p.His3986Arg
XM_011527204.1:c.11987A>G	XP_011525506.1:p.His3996Arg
XM_011527205.1:c.11990A>G	XP_011525507.1:p.His3997Arg
XM_006723317.2:c.11972A>G	XP_006723380.1:p.His3991Arg
XM_006723319.2:c.11957A>G	XP_006723382.1:p.His3986Arg
XM_011527205.2:c.11990A>G	XP_011525507.1:p.His3997Arg
NM_000540.3:c.11990A>G MANE Select	NP_000531.2:p.His3997Arg
NM_001042723.2:c.11975A>G	NP_001036188.1:p.His3992Arg