Canonical Allele Identifier: CA405671090

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565092-C-G
• MyVariant Identifiers: chr19:g.39055732C>G (hg19) ; chr19:g.38565092C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565092C>G , CM000681.2:g.38565092C>G	GRCh38
NC_000019.9:g.39055732C>G , CM000681.1:g.39055732C>G	GRCh37
NC_000019.8:g.43747572C>G	NCBI36
NG_008866.1:g.136393C>G , LRG_766:g.136393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1168C>G
ENST00000689936.1:c.1150C>G
ENST00000359596.8:c.12758C>G MANE Select	ENSP00000352608.2:p.Pro4253Arg
ENST00000355481.8:c.12743C>G	ENSP00000347667.3:p.Pro4248Arg
ENST00000359596.7:c.12758C>G	ENSP00000352608.2:p.Pro4253Arg
ENST00000360985.7:c.12740C>G	ENSP00000354254.4:p.Pro4247Arg
ENST00000594335.5:c.6127C>G
NM_000540.2:c.12758C>G , LRG_766t1:c.12758C>G	NP_000531.2:p.Pro4253Arg
NM_001042723.1:c.12743C>G	NP_001036188.1:p.Pro4248Arg
XM_006723317.1:c.12740C>G	XP_006723380.1:p.Pro4247Arg
XM_006723319.1:c.12725C>G	XP_006723382.1:p.Pro4242Arg
XM_011527204.1:c.12755C>G	XP_011525506.1:p.Pro4252Arg
XM_011527205.1:c.12758C>G	XP_011525507.1:p.Pro4253Arg
XM_006723317.2:c.12740C>G	XP_006723380.1:p.Pro4247Arg
XM_006723319.2:c.12725C>G	XP_006723382.1:p.Pro4242Arg
XM_011527205.2:c.12758C>G	XP_011525507.1:p.Pro4253Arg
NM_000540.3:c.12758C>G MANE Select	NP_000531.2:p.Pro4253Arg
NM_001042723.2:c.12743C>G	NP_001036188.1:p.Pro4248Arg