Canonical Allele Identifier: CA061956

Gene: RYR1

Linked Data

• ClinVar Variation Id: 256454
• ClinVar RCV Id: RCV000241903 ; RCV000277489 ; RCV000308165 ; RCV000332546 ; RCV000362889 ; RCV001080361
• dbSNP Id: rs2229149
• ExAC: 19:39077210 G / A
• gnomAD v2: 19-39077210-G-A
• gnomAD v3: 19-38586570-G-A
• gnomAD v4: 19-38586570-G-A
• MyVariant Identifiers: chr19:g.39077210G>A (hg19) ; chr19:g.38586570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586570G>A , CM000681.2:g.38586570G>A	GRCh38
NC_000019.9:g.39077210G>A , CM000681.1:g.39077210G>A	GRCh37
NC_000019.8:g.43769050G>A	NCBI36
NG_008866.1:g.157871G>A , LRG_766:g.157871G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1951G>A
ENST00000688602.1:c.3348G>A
ENST00000689936.1:c.3320G>A
ENST00000692547.1:n.408G>A
ENST00000359596.8:c.15015G>A MANE Select	ENSP00000352608.2:p.Thr5005=
ENST00000355481.8:c.15000G>A	ENSP00000347667.3:p.Thr5000=
ENST00000359596.7:c.15015G>A	ENSP00000352608.2:p.Thr5005=
ENST00000360985.7:c.14997G>A	ENSP00000354254.4:p.Thr4999=
NM_000540.2:c.15015G>A , LRG_766t1:c.15015G>A	NP_000531.2:p.Thr5005=
NM_001042723.1:c.15000G>A	NP_001036188.1:p.Thr5000=
XM_006723317.1:c.14997G>A	XP_006723380.1:p.Thr4999=
XM_006723319.1:c.14982G>A	XP_006723382.1:p.Thr4994=
XM_011527204.1:c.15012G>A	XP_011525506.1:p.Thr5004=
XM_011527205.1:c.14928G>A	XP_011525507.1:p.Thr4976=
XM_006723317.2:c.14997G>A	XP_006723380.1:p.Thr4999=
XM_006723319.2:c.14982G>A	XP_006723382.1:p.Thr4994=
XM_011527205.2:c.14928G>A	XP_011525507.1:p.Thr4976=
NM_000540.3:c.15015G>A MANE Select	NP_000531.2:p.Thr5005=
NM_001042723.2:c.15000G>A	NP_001036188.1:p.Thr5000=