Canonical Allele Identifier: CA507354754

Gene: RYR1

Linked Data

• gnomAD v4: 19-38543417-C-T
• MyVariant Identifiers: chr19:g.39034057C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543417C>T , CM000681.2:g.38543417C>T	GRCh38
NC_000019.9:g.39034057C>T , CM000681.1:g.39034057C>T	GRCh37
NC_000019.8:g.43725897C>T	NCBI36
NG_008866.1:g.114718C>T , LRG_766:g.114718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.170C>T
ENST00000689936.1:c.152C>T
ENST00000359596.8:c.11760C>T MANE Select	ENSP00000352608.2:p.Asp3920=
ENST00000355481.8:c.11745C>T	ENSP00000347667.3:p.Asp3915=
ENST00000359596.7:c.11760C>T	ENSP00000352608.2:p.Asp3920=
ENST00000360985.7:c.11742C>T	ENSP00000354254.4:p.Asp3914=
ENST00000593322.1:c.369C>T
ENST00000594335.5:c.5129C>T
NM_000540.2:c.11760C>T , LRG_766t1:c.11760C>T	NP_000531.2:p.Asp3920=
NM_001042723.1:c.11745C>T	NP_001036188.1:p.Asp3915=
XM_006723317.1:c.11742C>T	XP_006723380.1:p.Asp3914=
XM_006723319.1:c.11727C>T	XP_006723382.1:p.Asp3909=
XM_011527204.1:c.11757C>T	XP_011525506.1:p.Asp3919=
XM_011527205.1:c.11760C>T	XP_011525507.1:p.Asp3920=
XM_006723317.2:c.11742C>T	XP_006723380.1:p.Asp3914=
XM_006723319.2:c.11727C>T	XP_006723382.1:p.Asp3909=
XM_011527205.2:c.11760C>T	XP_011525507.1:p.Asp3920=
NM_000540.3:c.11760C>T MANE Select	NP_000531.2:p.Asp3920=
NM_001042723.2:c.11745C>T	NP_001036188.1:p.Asp3915=