Canonical Allele Identifier: CA507355847

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1117720
• ClinVar RCV Id: RCV001446561
• dbSNP Id: rs1285802730
• gnomAD v2: 19-39056207-C-T
• gnomAD v4: 19-38565567-C-T
• MyVariant Identifiers: chr19:g.39056207C>T (hg19) ; chr19:g.38565567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565567C>T , CM000681.2:g.38565567C>T	GRCh38
NC_000019.9:g.39056207C>T , CM000681.1:g.39056207C>T	GRCh37
NC_000019.8:g.43748047C>T	NCBI36
NG_008866.1:g.136868C>T , LRG_766:g.136868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.169C>T
ENST00000688602.1:c.1643C>T
ENST00000689936.1:c.1625C>T
ENST00000359596.8:c.13233C>T MANE Select	ENSP00000352608.2:p.Gly4411=
ENST00000355481.8:c.13218C>T	ENSP00000347667.3:p.Gly4406=
ENST00000359596.7:c.13233C>T	ENSP00000352608.2:p.Gly4411=
ENST00000360985.7:c.13215C>T	ENSP00000354254.4:p.Gly4405=
NM_000540.2:c.13233C>T , LRG_766t1:c.13233C>T	NP_000531.2:p.Gly4411=
NM_001042723.1:c.13218C>T	NP_001036188.1:p.Gly4406=
XM_006723317.1:c.13215C>T	XP_006723380.1:p.Gly4405=
XM_006723319.1:c.13200C>T	XP_006723382.1:p.Gly4400=
XM_011527204.1:c.13230C>T	XP_011525506.1:p.Gly4410=
XM_011527205.1:c.13233C>T	XP_011525507.1:p.Gly4411=
XM_006723317.2:c.13215C>T	XP_006723380.1:p.Gly4405=
XM_006723319.2:c.13200C>T	XP_006723382.1:p.Gly4400=
XM_011527205.2:c.13233C>T	XP_011525507.1:p.Gly4411=
NM_000540.3:c.13233C>T MANE Select	NP_000531.2:p.Gly4411=
NM_001042723.2:c.13218C>T	NP_001036188.1:p.Gly4406=