Canonical Allele Identifier: CA308126597

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3011306
• ClinVar RCV Id: RCV003869969
• dbSNP Id: rs370794547
• MyVariant Identifiers: chr19:g.39076723A>T (hg19) ; chr19:g.38586083A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586083A>T , CM000681.2:g.38586083A>T	GRCh38
NC_000019.9:g.39076723A>T , CM000681.1:g.39076723A>T	GRCh37
NC_000019.8:g.43768563A>T	NCBI36
NG_008866.1:g.157384A>T , LRG_766:g.157384A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1805-8A>T
ENST00000688602.1:c.3202-8A>T
ENST00000689936.1:c.3174-8A>T
ENST00000692547.1:n.262-8A>T
ENST00000359596.8:c.14869-8A>T MANE Select	ENSP00000352608.2:n.14869-8A>T
ENST00000355481.8:c.14854-8A>T	ENSP00000347667.3:n.14854-8A>T
ENST00000359596.7:c.14869-8A>T	ENSP00000352608.2:n.14869-8A>T
ENST00000360985.7:c.14851-8A>T	ENSP00000354254.4:n.14851-8A>T
NM_000540.2:c.14869-8A>T , LRG_766t1:c.14869-8A>T	NP_000531.2:n.14869-8A>T
NM_001042723.1:c.14854-8A>T	NP_001036188.1:n.14854-8A>T
XM_006723317.1:c.14851-8A>T	XP_006723380.1:n.14851-8A>T
XM_006723319.1:c.14836-8A>T	XP_006723382.1:n.14836-8A>T
XM_011527204.1:c.14866-8A>T	XP_011525506.1:n.14866-8A>T
XM_011527205.1:c.14782-8A>T	XP_011525507.1:n.14782-8A>T
XM_006723317.2:c.14851-8A>T	XP_006723380.1:n.14851-8A>T
XM_006723319.2:c.14836-8A>T	XP_006723382.1:n.14836-8A>T
XM_011527205.2:c.14782-8A>T	XP_011525507.1:n.14782-8A>T
NM_000540.3:c.14869-8A>T MANE Select	NP_000531.2:n.14869-8A>T
NM_001042723.2:c.14854-8A>T	NP_001036188.1:n.14854-8A>T