Canonical Allele Identifier: CA405681124

Gene: RYR1

Linked Data

• dbSNP Id: rs1973747259
• gnomAD v3: 19-38572194-A-G
• gnomAD v4: 19-38572194-A-G
• MyVariant Identifiers: chr19:g.39062834A>G (hg19) ; chr19:g.38572194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572194A>G , CM000681.2:g.38572194A>G	GRCh38
NC_000019.9:g.39062834A>G , CM000681.1:g.39062834A>G	GRCh37
NC_000019.8:g.43754674A>G	NCBI36
NG_008866.1:g.143495A>G , LRG_766:g.143495A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.858A>G
ENST00000688602.1:c.2255A>G
ENST00000689936.1:c.2227A>G
ENST00000359596.8:c.13922A>G MANE Select	ENSP00000352608.2:p.Glu4641Gly
ENST00000355481.8:c.13907A>G	ENSP00000347667.3:p.Glu4636Gly
ENST00000359596.7:c.13922A>G	ENSP00000352608.2:p.Glu4641Gly
ENST00000360985.7:c.13904A>G	ENSP00000354254.4:p.Glu4635Gly
ENST00000593677.1:c.382A>G
NM_000540.2:c.13922A>G , LRG_766t1:c.13922A>G	NP_000531.2:p.Glu4641Gly
NM_001042723.1:c.13907A>G	NP_001036188.1:p.Glu4636Gly
XM_006723317.1:c.13904A>G	XP_006723380.1:p.Glu4635Gly
XM_006723319.1:c.13889A>G	XP_006723382.1:p.Glu4630Gly
XM_011527204.1:c.13919A>G	XP_011525506.1:p.Glu4640Gly
XM_011527205.1:c.13835A>G	XP_011525507.1:p.Glu4612Gly
XM_006723317.2:c.13904A>G	XP_006723380.1:p.Glu4635Gly
XM_006723319.2:c.13889A>G	XP_006723382.1:p.Glu4630Gly
XM_011527205.2:c.13835A>G	XP_011525507.1:p.Glu4612Gly
NM_000540.3:c.13922A>G MANE Select	NP_000531.2:p.Glu4641Gly
NM_001042723.2:c.13907A>G	NP_001036188.1:p.Glu4636Gly