Canonical Allele Identifier: CA405687954

Gene: RYR1

Linked Data

• dbSNP Id: rs1356112333
• gnomAD v2: 19-39071110-A-T
• gnomAD v4: 19-38580470-A-T
• MyVariant Identifiers: chr19:g.39071110A>T (hg19) ; chr19:g.38580470A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580470A>T , CM000681.2:g.38580470A>T	GRCh38
NC_000019.9:g.39071110A>T , CM000681.1:g.39071110A>T	GRCh37
NC_000019.8:g.43762950A>T	NCBI36
NG_008866.1:g.151771A>T , LRG_766:g.151771A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1548A>T
ENST00000688602.1:c.2945A>T
ENST00000689936.1:c.2917A>T
ENST00000359596.8:c.14612A>T MANE Select	ENSP00000352608.2:p.Asp4871Val
ENST00000355481.8:c.14597A>T	ENSP00000347667.3:p.Asp4866Val
ENST00000359596.7:c.14612A>T	ENSP00000352608.2:p.Asp4871Val
ENST00000360985.7:c.14594A>T	ENSP00000354254.4:p.Asp4865Val
NM_000540.2:c.14612A>T , LRG_766t1:c.14612A>T	NP_000531.2:p.Asp4871Val
NM_001042723.1:c.14597A>T	NP_001036188.1:p.Asp4866Val
XM_006723317.1:c.14594A>T	XP_006723380.1:p.Asp4865Val
XM_006723319.1:c.14579A>T	XP_006723382.1:p.Asp4860Val
XM_011527204.1:c.14609A>T	XP_011525506.1:p.Asp4870Val
XM_011527205.1:c.14525A>T	XP_011525507.1:p.Asp4842Val
XM_006723317.2:c.14594A>T	XP_006723380.1:p.Asp4865Val
XM_006723319.2:c.14579A>T	XP_006723382.1:p.Asp4860Val
XM_011527205.2:c.14525A>T	XP_011525507.1:p.Asp4842Val
NM_000540.3:c.14612A>T MANE Select	NP_000531.2:p.Asp4871Val
NM_001042723.2:c.14597A>T	NP_001036188.1:p.Asp4866Val