Canonical Allele Identifier: CA308114051

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1061569
• ClinVar RCV Id: RCV001371176 ; RCV004006828
• dbSNP Id: rs929800544
• gnomAD v2: 19-39062711-A-T
• gnomAD v3: 19-38572071-A-T
• gnomAD v4: 19-38572071-A-T
• MyVariant Identifiers: chr19:g.39062711A>T (hg19) ; chr19:g.38572071A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572071A>T , CM000681.2:g.38572071A>T	GRCh38
NC_000019.9:g.39062711A>T , CM000681.1:g.39062711A>T	GRCh37
NC_000019.8:g.43754551A>T	NCBI36
NG_008866.1:g.143372A>T , LRG_766:g.143372A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.735A>T
ENST00000688602.1:c.2132A>T
ENST00000689936.1:c.2104A>T
ENST00000359596.8:c.13799A>T MANE Select	ENSP00000352608.2:p.Asp4600Val
ENST00000355481.8:c.13784A>T	ENSP00000347667.3:p.Asp4595Val
ENST00000359596.7:c.13799A>T	ENSP00000352608.2:p.Asp4600Val
ENST00000360985.7:c.13781A>T	ENSP00000354254.4:p.Asp4594Val
ENST00000593677.1:c.259A>T
NM_000540.2:c.13799A>T , LRG_766t1:c.13799A>T	NP_000531.2:p.Asp4600Val
NM_001042723.1:c.13784A>T	NP_001036188.1:p.Asp4595Val
XM_006723317.1:c.13781A>T	XP_006723380.1:p.Asp4594Val
XM_006723319.1:c.13766A>T	XP_006723382.1:p.Asp4589Val
XM_011527204.1:c.13796A>T	XP_011525506.1:p.Asp4599Val
XM_011527205.1:c.13712A>T	XP_011525507.1:p.Asp4571Val
XM_006723317.2:c.13781A>T	XP_006723380.1:p.Asp4594Val
XM_006723319.2:c.13766A>T	XP_006723382.1:p.Asp4589Val
XM_011527205.2:c.13712A>T	XP_011525507.1:p.Asp4571Val
NM_000540.3:c.13799A>T MANE Select	NP_000531.2:p.Asp4600Val
NM_001042723.2:c.13784A>T	NP_001036188.1:p.Asp4595Val