Canonical Allele Identifier: CA507354633

Gene: RYR1

Linked Data

• gnomAD v4: 19-38543390-T-G
• MyVariant Identifiers: chr19:g.39034030T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543390T>G , CM000681.2:g.38543390T>G	GRCh38
NC_000019.9:g.39034030T>G , CM000681.1:g.39034030T>G	GRCh37
NC_000019.8:g.43725870T>G	NCBI36
NG_008866.1:g.114691T>G , LRG_766:g.114691T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.143T>G
ENST00000689936.1:c.125T>G
ENST00000359596.8:c.11733T>G MANE Select	ENSP00000352608.2:p.Thr3911=
ENST00000355481.8:c.11718T>G	ENSP00000347667.3:p.Thr3906=
ENST00000359596.7:c.11733T>G	ENSP00000352608.2:p.Thr3911=
ENST00000360985.7:c.11715T>G	ENSP00000354254.4:p.Thr3905=
ENST00000593322.1:c.342T>G
ENST00000594335.5:c.5102T>G
NM_000540.2:c.11733T>G , LRG_766t1:c.11733T>G	NP_000531.2:p.Thr3911=
NM_001042723.1:c.11718T>G	NP_001036188.1:p.Thr3906=
XM_006723317.1:c.11715T>G	XP_006723380.1:p.Thr3905=
XM_006723319.1:c.11700T>G	XP_006723382.1:p.Thr3900=
XM_011527204.1:c.11730T>G	XP_011525506.1:p.Thr3910=
XM_011527205.1:c.11733T>G	XP_011525507.1:p.Thr3911=
XM_006723317.2:c.11715T>G	XP_006723380.1:p.Thr3905=
XM_006723319.2:c.11700T>G	XP_006723382.1:p.Thr3900=
XM_011527205.2:c.11733T>G	XP_011525507.1:p.Thr3911=
NM_000540.3:c.11733T>G MANE Select	NP_000531.2:p.Thr3911=
NM_001042723.2:c.11718T>G	NP_001036188.1:p.Thr3906=