Canonical Allele Identifier: CA405681922

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1414064
• ClinVar RCV Id: RCV001928510 ; RCV003134236 ; RCV004010868
• dbSNP Id: rs1328709837
• gnomAD v2: 19-39063839-G-A
• gnomAD v4: 19-38573199-G-A
• MyVariant Identifiers: chr19:g.39063839G>A (hg19) ; chr19:g.38573199G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573199G>A , CM000681.2:g.38573199G>A	GRCh38
NC_000019.9:g.39063839G>A , CM000681.1:g.39063839G>A	GRCh37
NC_000019.8:g.43755679G>A	NCBI36
NG_008866.1:g.144500G>A , LRG_766:g.144500G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.957G>A
ENST00000688602.1:c.2354G>A
ENST00000689936.1:c.2326G>A
ENST00000359596.8:c.14021G>A MANE Select	ENSP00000352608.2:p.Arg4674Gln
ENST00000355481.8:c.14006G>A	ENSP00000347667.3:p.Arg4669Gln
ENST00000359596.7:c.14021G>A	ENSP00000352608.2:p.Arg4674Gln
ENST00000360985.7:c.14003G>A	ENSP00000354254.4:p.Arg4668Gln
NM_000540.2:c.14021G>A , LRG_766t1:c.14021G>A	NP_000531.2:p.Arg4674Gln
NM_001042723.1:c.14006G>A	NP_001036188.1:p.Arg4669Gln
XM_006723317.1:c.14003G>A	XP_006723380.1:p.Arg4668Gln
XM_006723319.1:c.13988G>A	XP_006723382.1:p.Arg4663Gln
XM_011527204.1:c.14018G>A	XP_011525506.1:p.Arg4673Gln
XM_011527205.1:c.13934G>A	XP_011525507.1:p.Arg4645Gln
XM_006723317.2:c.14003G>A	XP_006723380.1:p.Arg4668Gln
XM_006723319.2:c.13988G>A	XP_006723382.1:p.Arg4663Gln
XM_011527205.2:c.13934G>A	XP_011525507.1:p.Arg4645Gln
NM_000540.3:c.14021G>A MANE Select	NP_000531.2:p.Arg4674Gln
NM_001042723.2:c.14006G>A	NP_001036188.1:p.Arg4669Gln