Canonical Allele Identifier: CA405693208

Gene: RYR1

Linked Data

• dbSNP Id: rs1974478715
• gnomAD v4: 19-38586167-A-G
• MyVariant Identifiers: chr19:g.39076807A>G (hg19) ; chr19:g.38586167A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586167A>G , CM000681.2:g.38586167A>G	GRCh38
NC_000019.9:g.39076807A>G , CM000681.1:g.39076807A>G	GRCh37
NC_000019.8:g.43768647A>G	NCBI36
NG_008866.1:g.157468A>G , LRG_766:g.157468A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1881A>G
ENST00000688602.1:c.3278A>G
ENST00000689936.1:c.3250A>G
ENST00000692547.1:n.338A>G
ENST00000359596.8:c.14945A>G MANE Select	ENSP00000352608.2:p.Glu4982Gly
ENST00000355481.8:c.14930A>G	ENSP00000347667.3:p.Glu4977Gly
ENST00000359596.7:c.14945A>G	ENSP00000352608.2:p.Glu4982Gly
ENST00000360985.7:c.14927A>G	ENSP00000354254.4:p.Glu4976Gly
NM_000540.2:c.14945A>G , LRG_766t1:c.14945A>G	NP_000531.2:p.Glu4982Gly
NM_001042723.1:c.14930A>G	NP_001036188.1:p.Glu4977Gly
XM_006723317.1:c.14927A>G	XP_006723380.1:p.Glu4976Gly
XM_006723319.1:c.14912A>G	XP_006723382.1:p.Glu4971Gly
XM_011527204.1:c.14942A>G	XP_011525506.1:p.Glu4981Gly
XM_011527205.1:c.14858A>G	XP_011525507.1:p.Glu4953Gly
XM_006723317.2:c.14927A>G	XP_006723380.1:p.Glu4976Gly
XM_006723319.2:c.14912A>G	XP_006723382.1:p.Glu4971Gly
XM_011527205.2:c.14858A>G	XP_011525507.1:p.Glu4953Gly
NM_000540.3:c.14945A>G MANE Select	NP_000531.2:p.Glu4982Gly
NM_001042723.2:c.14930A>G	NP_001036188.1:p.Glu4977Gly