Canonical Allele Identifier: CA507238665

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2907233
• ClinVar RCV Id: RCV003756998
• MyVariant Identifiers: chr19:g.38976384C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38485744C>T , CM000681.2:g.38485744C>T	GRCh38
NC_000019.9:g.38976384C>T , CM000681.1:g.38976384C>T	GRCh37
NC_000019.8:g.43668224C>T	NCBI36
NG_008866.1:g.57045C>T , LRG_766:g.57045C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.5089C>T	ENSP00000471601.2:p.Leu1697=
ENST00000359596.8:c.5089C>T MANE Select	ENSP00000352608.2:p.Leu1697=
ENST00000355481.8:c.5089C>T	ENSP00000347667.3:p.Leu1697=
ENST00000359596.7:c.5089C>T	ENSP00000352608.2:p.Leu1697=
ENST00000360985.7:c.5086C>T	ENSP00000354254.4:p.Leu1696=
NM_000540.2:c.5089C>T , LRG_766t1:c.5089C>T	NP_000531.2:p.Leu1697=
NM_001042723.1:c.5089C>T	NP_001036188.1:p.Leu1697=
XM_006723317.1:c.5089C>T	XP_006723380.1:p.Leu1697=
XM_006723319.1:c.5089C>T	XP_006723382.1:p.Leu1697=
XM_011527204.1:c.5086C>T	XP_011525506.1:p.Leu1696=
XM_011527205.1:c.5089C>T	XP_011525507.1:p.Leu1697=
XM_006723317.2:c.5089C>T	XP_006723380.1:p.Leu1697=
XM_006723319.2:c.5089C>T	XP_006723382.1:p.Leu1697=
XM_011527205.2:c.5089C>T	XP_011525507.1:p.Leu1697=
XR_001753735.1:n.5172C>T
NM_000540.3:c.5089C>T MANE Select	NP_000531.2:p.Leu1697=
NM_001042723.2:c.5089C>T	NP_001036188.1:p.Leu1697=