Canonical Allele Identifier: CA405663066

Gene: RYR1

Linked Data

• dbSNP Id: rs1438212286
• gnomAD v2: 19-39034515-G-T
• MyVariant Identifiers: chr19:g.39034515G>T (hg19) ; chr19:g.38543875G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543875G>T , CM000681.2:g.38543875G>T	GRCh38
NC_000019.9:g.39034515G>T , CM000681.1:g.39034515G>T	GRCh37
NC_000019.8:g.43726355G>T	NCBI36
NG_008866.1:g.115176G>T , LRG_766:g.115176G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.422G>T
ENST00000689936.1:c.404G>T
ENST00000359596.8:c.12012G>T MANE Select	ENSP00000352608.2:p.Gln4004His
ENST00000355481.8:c.11997G>T	ENSP00000347667.3:p.Gln3999His
ENST00000359596.7:c.12012G>T	ENSP00000352608.2:p.Gln4004His
ENST00000360985.7:c.11994G>T	ENSP00000354254.4:p.Gln3998His
ENST00000593322.1:c.621G>T
ENST00000594335.5:c.5381G>T
NM_000540.2:c.12012G>T , LRG_766t1:c.12012G>T	NP_000531.2:p.Gln4004His
NM_001042723.1:c.11997G>T	NP_001036188.1:p.Gln3999His
XM_006723317.1:c.11994G>T	XP_006723380.1:p.Gln3998His
XM_006723319.1:c.11979G>T	XP_006723382.1:p.Gln3993His
XM_011527204.1:c.12009G>T	XP_011525506.1:p.Gln4003His
XM_011527205.1:c.12012G>T	XP_011525507.1:p.Gln4004His
XM_006723317.2:c.11994G>T	XP_006723380.1:p.Gln3998His
XM_006723319.2:c.11979G>T	XP_006723382.1:p.Gln3993His
XM_011527205.2:c.12012G>T	XP_011525507.1:p.Gln4004His
NM_000540.3:c.12012G>T MANE Select	NP_000531.2:p.Gln4004His
NM_001042723.2:c.11997G>T	NP_001036188.1:p.Gln3999His