Canonical Allele Identifier: CA507355604

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565433-C-T
• MyVariant Identifiers: chr19:g.39056073C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565433C>T , CM000681.2:g.38565433C>T	GRCh38
NC_000019.9:g.39056073C>T , CM000681.1:g.39056073C>T	GRCh37
NC_000019.8:g.43747913C>T	NCBI36
NG_008866.1:g.136734C>T , LRG_766:g.136734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.35C>T
ENST00000688602.1:c.1509C>T
ENST00000689936.1:c.1491C>T
ENST00000359596.8:c.13099C>T MANE Select	ENSP00000352608.2:p.Leu4367=
ENST00000355481.8:c.13084C>T	ENSP00000347667.3:p.Leu4362=
ENST00000359596.7:c.13099C>T	ENSP00000352608.2:p.Leu4367=
ENST00000360985.7:c.13081C>T	ENSP00000354254.4:p.Leu4361=
NM_000540.2:c.13099C>T , LRG_766t1:c.13099C>T	NP_000531.2:p.Leu4367=
NM_001042723.1:c.13084C>T	NP_001036188.1:p.Leu4362=
XM_006723317.1:c.13081C>T	XP_006723380.1:p.Leu4361=
XM_006723319.1:c.13066C>T	XP_006723382.1:p.Leu4356=
XM_011527204.1:c.13096C>T	XP_011525506.1:p.Leu4366=
XM_011527205.1:c.13099C>T	XP_011525507.1:p.Leu4367=
XM_006723317.2:c.13081C>T	XP_006723380.1:p.Leu4361=
XM_006723319.2:c.13066C>T	XP_006723382.1:p.Leu4356=
XM_011527205.2:c.13099C>T	XP_011525507.1:p.Leu4367=
NM_000540.3:c.13099C>T MANE Select	NP_000531.2:p.Leu4367=
NM_001042723.2:c.13084C>T	NP_001036188.1:p.Leu4362=