Canonical Allele Identifier: CA405688046

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2435511
• ClinVar RCV Id: RCV003135821
• MyVariant Identifiers: chr19:g.39071123G>T (hg19) ; chr19:g.38580483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580483G>T , CM000681.2:g.38580483G>T	GRCh38
NC_000019.9:g.39071123G>T , CM000681.1:g.39071123G>T	GRCh37
NC_000019.8:g.43762963G>T	NCBI36
NG_008866.1:g.151784G>T , LRG_766:g.151784G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1561G>T
ENST00000688602.1:c.2958G>T
ENST00000689936.1:c.2930G>T
ENST00000359596.8:c.14625G>T MANE Select	ENSP00000352608.2:p.Met4875Ile
ENST00000355481.8:c.14610G>T	ENSP00000347667.3:p.Met4870Ile
ENST00000359596.7:c.14625G>T	ENSP00000352608.2:p.Met4875Ile
ENST00000360985.7:c.14607G>T	ENSP00000354254.4:p.Met4869Ile
NM_000540.2:c.14625G>T , LRG_766t1:c.14625G>T	NP_000531.2:p.Met4875Ile
NM_001042723.1:c.14610G>T	NP_001036188.1:p.Met4870Ile
XM_006723317.1:c.14607G>T	XP_006723380.1:p.Met4869Ile
XM_006723319.1:c.14592G>T	XP_006723382.1:p.Met4864Ile
XM_011527204.1:c.14622G>T	XP_011525506.1:p.Met4874Ile
XM_011527205.1:c.14538G>T	XP_011525507.1:p.Met4846Ile
XM_006723317.2:c.14607G>T	XP_006723380.1:p.Met4869Ile
XM_006723319.2:c.14592G>T	XP_006723382.1:p.Met4864Ile
XM_011527205.2:c.14538G>T	XP_011525507.1:p.Met4846Ile
NM_000540.3:c.14625G>T MANE Select	NP_000531.2:p.Met4875Ile
NM_001042723.2:c.14610G>T	NP_001036188.1:p.Met4870Ile