Canonical Allele Identifier: CA507354610

Gene: RYR1

Linked Data

• gnomAD v4: 19-38543375-A-G
• MyVariant Identifiers: chr19:g.39034015A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543375A>G , CM000681.2:g.38543375A>G	GRCh38
NC_000019.9:g.39034015A>G , CM000681.1:g.39034015A>G	GRCh37
NC_000019.8:g.43725855A>G	NCBI36
NG_008866.1:g.114676A>G , LRG_766:g.114676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.128A>G
ENST00000689936.1:c.110A>G
ENST00000359596.8:c.11718A>G MANE Select	ENSP00000352608.2:p.Thr3906=
ENST00000355481.8:c.11703A>G	ENSP00000347667.3:p.Thr3901=
ENST00000359596.7:c.11718A>G	ENSP00000352608.2:p.Thr3906=
ENST00000360985.7:c.11700A>G	ENSP00000354254.4:p.Thr3900=
ENST00000593322.1:c.327A>G
ENST00000594335.5:c.5087A>G
NM_000540.2:c.11718A>G , LRG_766t1:c.11718A>G	NP_000531.2:p.Thr3906=
NM_001042723.1:c.11703A>G	NP_001036188.1:p.Thr3901=
XM_006723317.1:c.11700A>G	XP_006723380.1:p.Thr3900=
XM_006723319.1:c.11685A>G	XP_006723382.1:p.Thr3895=
XM_011527204.1:c.11715A>G	XP_011525506.1:p.Thr3905=
XM_011527205.1:c.11718A>G	XP_011525507.1:p.Thr3906=
XM_006723317.2:c.11700A>G	XP_006723380.1:p.Thr3900=
XM_006723319.2:c.11685A>G	XP_006723382.1:p.Thr3895=
XM_011527205.2:c.11718A>G	XP_011525507.1:p.Thr3906=
NM_000540.3:c.11718A>G MANE Select	NP_000531.2:p.Thr3906=
NM_001042723.2:c.11703A>G	NP_001036188.1:p.Thr3901=