Canonical Allele Identifier: CA059617

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590424
• ClinVar RCV Id: RCV000721305 ; RCV001362581 ; RCV002507264 ; RCV004026924
• dbSNP Id: rs748844266
• ExAC: 19:39056154 G / A
• gnomAD v2: 19-39056154-G-A
• gnomAD v3: 19-38565514-G-A
• gnomAD v4: 19-38565514-G-A
• MyVariant Identifiers: chr19:g.39056154G>A (hg19) ; chr19:g.38565514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565514G>A , CM000681.2:g.38565514G>A	GRCh38
NC_000019.9:g.39056154G>A , CM000681.1:g.39056154G>A	GRCh37
NC_000019.8:g.43747994G>A	NCBI36
NG_008866.1:g.136815G>A , LRG_766:g.136815G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.116G>A
ENST00000688602.1:c.1590G>A
ENST00000689936.1:c.1572G>A
ENST00000359596.8:c.13180G>A MANE Select	ENSP00000352608.2:p.Glu4394Lys
ENST00000355481.8:c.13165G>A	ENSP00000347667.3:p.Glu4389Lys
ENST00000359596.7:c.13180G>A	ENSP00000352608.2:p.Glu4394Lys
ENST00000360985.7:c.13162G>A	ENSP00000354254.4:p.Glu4388Lys
NM_000540.2:c.13180G>A , LRG_766t1:c.13180G>A	NP_000531.2:p.Glu4394Lys
NM_001042723.1:c.13165G>A	NP_001036188.1:p.Glu4389Lys
XM_006723317.1:c.13162G>A	XP_006723380.1:p.Glu4388Lys
XM_006723319.1:c.13147G>A	XP_006723382.1:p.Glu4383Lys
XM_011527204.1:c.13177G>A	XP_011525506.1:p.Glu4393Lys
XM_011527205.1:c.13180G>A	XP_011525507.1:p.Glu4394Lys
XM_006723317.2:c.13162G>A	XP_006723380.1:p.Glu4388Lys
XM_006723319.2:c.13147G>A	XP_006723382.1:p.Glu4383Lys
XM_011527205.2:c.13180G>A	XP_011525507.1:p.Glu4394Lys
NM_000540.3:c.13180G>A MANE Select	NP_000531.2:p.Glu4394Lys
NM_001042723.2:c.13165G>A	NP_001036188.1:p.Glu4389Lys