Canonical Allele Identifier: CA405672938

Gene: RYR1

Linked Data

• dbSNP Id: rs1435123060
• gnomAD v3: 19-38565338-T-G
• gnomAD v4: 19-38565338-T-G
• MyVariant Identifiers: chr19:g.39055978T>G (hg19) ; chr19:g.38565338T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565338T>G , CM000681.2:g.38565338T>G	GRCh38
NC_000019.9:g.39055978T>G , CM000681.1:g.39055978T>G	GRCh37
NC_000019.8:g.43747818T>G	NCBI36
NG_008866.1:g.136639T>G , LRG_766:g.136639T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1414T>G
ENST00000689936.1:c.1396T>G
ENST00000359596.8:c.13004T>G MANE Select	ENSP00000352608.2:p.Leu4335Arg
ENST00000355481.8:c.12989T>G	ENSP00000347667.3:p.Leu4330Arg
ENST00000359596.7:c.13004T>G	ENSP00000352608.2:p.Leu4335Arg
ENST00000360985.7:c.12986T>G	ENSP00000354254.4:p.Leu4329Arg
NM_000540.2:c.13004T>G , LRG_766t1:c.13004T>G	NP_000531.2:p.Leu4335Arg
NM_001042723.1:c.12989T>G	NP_001036188.1:p.Leu4330Arg
XM_006723317.1:c.12986T>G	XP_006723380.1:p.Leu4329Arg
XM_006723319.1:c.12971T>G	XP_006723382.1:p.Leu4324Arg
XM_011527204.1:c.13001T>G	XP_011525506.1:p.Leu4334Arg
XM_011527205.1:c.13004T>G	XP_011525507.1:p.Leu4335Arg
XM_006723317.2:c.12986T>G	XP_006723380.1:p.Leu4329Arg
XM_006723319.2:c.12971T>G	XP_006723382.1:p.Leu4324Arg
XM_011527205.2:c.13004T>G	XP_011525507.1:p.Leu4335Arg
NM_000540.3:c.13004T>G MANE Select	NP_000531.2:p.Leu4335Arg
NM_001042723.2:c.12989T>G	NP_001036188.1:p.Leu4330Arg