Canonical Allele Identifier: CA405687697

Gene: RYR1

Linked Data

• gnomAD v4: 19-38580416-C-G
• MyVariant Identifiers: chr19:g.39071056C>G (hg19) ; chr19:g.38580416C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580416C>G , CM000681.2:g.38580416C>G	GRCh38
NC_000019.9:g.39071056C>G , CM000681.1:g.39071056C>G	GRCh37
NC_000019.8:g.43762896C>G	NCBI36
NG_008866.1:g.151717C>G , LRG_766:g.151717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1494C>G
ENST00000688602.1:c.2891C>G
ENST00000689936.1:c.2863C>G
ENST00000359596.8:c.14558C>G MANE Select	ENSP00000352608.2:p.Thr4853Ser
ENST00000355481.8:c.14543C>G	ENSP00000347667.3:p.Thr4848Ser
ENST00000359596.7:c.14558C>G	ENSP00000352608.2:p.Thr4853Ser
ENST00000360985.7:c.14540C>G	ENSP00000354254.4:p.Thr4847Ser
NM_000540.2:c.14558C>G , LRG_766t1:c.14558C>G	NP_000531.2:p.Thr4853Ser
NM_001042723.1:c.14543C>G	NP_001036188.1:p.Thr4848Ser
XM_006723317.1:c.14540C>G	XP_006723380.1:p.Thr4847Ser
XM_006723319.1:c.14525C>G	XP_006723382.1:p.Thr4842Ser
XM_011527204.1:c.14555C>G	XP_011525506.1:p.Thr4852Ser
XM_011527205.1:c.14471C>G	XP_011525507.1:p.Thr4824Ser
XM_006723317.2:c.14540C>G	XP_006723380.1:p.Thr4847Ser
XM_006723319.2:c.14525C>G	XP_006723382.1:p.Thr4842Ser
XM_011527205.2:c.14471C>G	XP_011525507.1:p.Thr4824Ser
NM_000540.3:c.14558C>G MANE Select	NP_000531.2:p.Thr4853Ser
NM_001042723.2:c.14543C>G	NP_001036188.1:p.Thr4848Ser