Canonical Allele Identifier: CA405671057

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565077-C-A
• MyVariant Identifiers: chr19:g.39055717C>A (hg19) ; chr19:g.38565077C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565077C>A , CM000681.2:g.38565077C>A	GRCh38
NC_000019.9:g.39055717C>A , CM000681.1:g.39055717C>A	GRCh37
NC_000019.8:g.43747557C>A	NCBI36
NG_008866.1:g.136378C>A , LRG_766:g.136378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1153C>A
ENST00000689936.1:c.1135C>A
ENST00000359596.8:c.12743C>A MANE Select	ENSP00000352608.2:p.Ala4248Glu
ENST00000355481.8:c.12728C>A	ENSP00000347667.3:p.Ala4243Glu
ENST00000359596.7:c.12743C>A	ENSP00000352608.2:p.Ala4248Glu
ENST00000360985.7:c.12725C>A	ENSP00000354254.4:p.Ala4242Glu
ENST00000594335.5:c.6112C>A
NM_000540.2:c.12743C>A , LRG_766t1:c.12743C>A	NP_000531.2:p.Ala4248Glu
NM_001042723.1:c.12728C>A	NP_001036188.1:p.Ala4243Glu
XM_006723317.1:c.12725C>A	XP_006723380.1:p.Ala4242Glu
XM_006723319.1:c.12710C>A	XP_006723382.1:p.Ala4237Glu
XM_011527204.1:c.12740C>A	XP_011525506.1:p.Ala4247Glu
XM_011527205.1:c.12743C>A	XP_011525507.1:p.Ala4248Glu
XM_006723317.2:c.12725C>A	XP_006723380.1:p.Ala4242Glu
XM_006723319.2:c.12710C>A	XP_006723382.1:p.Ala4237Glu
XM_011527205.2:c.12743C>A	XP_011525507.1:p.Ala4248Glu
NM_000540.3:c.12743C>A MANE Select	NP_000531.2:p.Ala4248Glu
NM_001042723.2:c.12728C>A	NP_001036188.1:p.Ala4243Glu