Canonical Allele Identifier: CA507245122

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063822C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573182C>G , CM000681.2:g.38573182C>G	GRCh38
NC_000019.9:g.39063822C>G , CM000681.1:g.39063822C>G	GRCh37
NC_000019.8:g.43755662C>G	NCBI36
NG_008866.1:g.144483C>G , LRG_766:g.144483C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.940C>G
ENST00000688602.1:c.2337C>G
ENST00000689936.1:c.2309C>G
ENST00000359596.8:c.14004C>G MANE Select	ENSP00000352608.2:p.Pro4668=
ENST00000355481.8:c.13989C>G	ENSP00000347667.3:p.Pro4663=
ENST00000359596.7:c.14004C>G	ENSP00000352608.2:p.Pro4668=
ENST00000360985.7:c.13986C>G	ENSP00000354254.4:p.Pro4662=
NM_000540.2:c.14004C>G , LRG_766t1:c.14004C>G	NP_000531.2:p.Pro4668=
NM_001042723.1:c.13989C>G	NP_001036188.1:p.Pro4663=
XM_006723317.1:c.13986C>G	XP_006723380.1:p.Pro4662=
XM_006723319.1:c.13971C>G	XP_006723382.1:p.Pro4657=
XM_011527204.1:c.14001C>G	XP_011525506.1:p.Pro4667=
XM_011527205.1:c.13917C>G	XP_011525507.1:p.Pro4639=
XM_006723317.2:c.13986C>G	XP_006723380.1:p.Pro4662=
XM_006723319.2:c.13971C>G	XP_006723382.1:p.Pro4657=
XM_011527205.2:c.13917C>G	XP_011525507.1:p.Pro4639=
NM_000540.3:c.14004C>G MANE Select	NP_000531.2:p.Pro4668=
NM_001042723.2:c.13989C>G	NP_001036188.1:p.Pro4663=