Canonical Allele Identifier: CA507355990

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2173645
• ClinVar RCV Id: RCV002598694 ; RCV004009441
• dbSNP Id: rs1186777047
• gnomAD v2: 19-39062736-C-T
• gnomAD v3: 19-38572096-C-T
• gnomAD v4: 19-38572096-C-T
• MyVariant Identifiers: chr19:g.39062736C>T (hg19) ; chr19:g.38572096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572096C>T , CM000681.2:g.38572096C>T	GRCh38
NC_000019.9:g.39062736C>T , CM000681.1:g.39062736C>T	GRCh37
NC_000019.8:g.43754576C>T	NCBI36
NG_008866.1:g.143397C>T , LRG_766:g.143397C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.760C>T
ENST00000688602.1:c.2157C>T
ENST00000689936.1:c.2129C>T
ENST00000359596.8:c.13824C>T MANE Select	ENSP00000352608.2:p.Gly4608=
ENST00000355481.8:c.13809C>T	ENSP00000347667.3:p.Gly4603=
ENST00000359596.7:c.13824C>T	ENSP00000352608.2:p.Gly4608=
ENST00000360985.7:c.13806C>T	ENSP00000354254.4:p.Gly4602=
ENST00000593677.1:c.284C>T
NM_000540.2:c.13824C>T , LRG_766t1:c.13824C>T	NP_000531.2:p.Gly4608=
NM_001042723.1:c.13809C>T	NP_001036188.1:p.Gly4603=
XM_006723317.1:c.13806C>T	XP_006723380.1:p.Gly4602=
XM_006723319.1:c.13791C>T	XP_006723382.1:p.Gly4597=
XM_011527204.1:c.13821C>T	XP_011525506.1:p.Gly4607=
XM_011527205.1:c.13737C>T	XP_011525507.1:p.Gly4579=
XM_006723317.2:c.13806C>T	XP_006723380.1:p.Gly4602=
XM_006723319.2:c.13791C>T	XP_006723382.1:p.Gly4597=
XM_011527205.2:c.13737C>T	XP_011525507.1:p.Gly4579=
NM_000540.3:c.13824C>T MANE Select	NP_000531.2:p.Gly4608=
NM_001042723.2:c.13809C>T	NP_001036188.1:p.Gly4603=