Canonical Allele Identifier: CA507355737

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565492-C-G
• MyVariant Identifiers: chr19:g.39056132C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565492C>G , CM000681.2:g.38565492C>G	GRCh38
NC_000019.9:g.39056132C>G , CM000681.1:g.39056132C>G	GRCh37
NC_000019.8:g.43747972C>G	NCBI36
NG_008866.1:g.136793C>G , LRG_766:g.136793C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.94C>G
ENST00000688602.1:c.1568C>G
ENST00000689936.1:c.1550C>G
ENST00000359596.8:c.13158C>G MANE Select	ENSP00000352608.2:p.Pro4386=
ENST00000355481.8:c.13143C>G	ENSP00000347667.3:p.Pro4381=
ENST00000359596.7:c.13158C>G	ENSP00000352608.2:p.Pro4386=
ENST00000360985.7:c.13140C>G	ENSP00000354254.4:p.Pro4380=
NM_000540.2:c.13158C>G , LRG_766t1:c.13158C>G	NP_000531.2:p.Pro4386=
NM_001042723.1:c.13143C>G	NP_001036188.1:p.Pro4381=
XM_006723317.1:c.13140C>G	XP_006723380.1:p.Pro4380=
XM_006723319.1:c.13125C>G	XP_006723382.1:p.Pro4375=
XM_011527204.1:c.13155C>G	XP_011525506.1:p.Pro4385=
XM_011527205.1:c.13158C>G	XP_011525507.1:p.Pro4386=
XM_006723317.2:c.13140C>G	XP_006723380.1:p.Pro4380=
XM_006723319.2:c.13125C>G	XP_006723382.1:p.Pro4375=
XM_011527205.2:c.13158C>G	XP_011525507.1:p.Pro4386=
NM_000540.3:c.13158C>G MANE Select	NP_000531.2:p.Pro4386=
NM_001042723.2:c.13143C>G	NP_001036188.1:p.Pro4381=