Canonical Allele Identifier: CA405649696

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39019249T>G (hg19) ; chr19:g.38528609T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38528609T>G , CM000681.2:g.38528609T>G	GRCh38
NC_000019.9:g.39019249T>G , CM000681.1:g.39019249T>G	GRCh37
NC_000019.8:g.43711089T>G	NCBI36
NG_008866.1:g.99910T>G , LRG_766:g.99910T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.10887T>G	ENSP00000471601.2:n.10887T>G
ENST00000359596.8:c.10948T>G MANE Select	ENSP00000352608.2:p.Cys3650Gly
ENST00000355481.8:c.10933T>G	ENSP00000347667.3:p.Cys3645Gly
ENST00000359596.7:c.10948T>G	ENSP00000352608.2:p.Cys3650Gly
ENST00000360985.7:c.10930T>G	ENSP00000354254.4:p.Cys3644Gly
ENST00000594335.5:c.4335T>G
ENST00000599547.5:c.1755T>G
ENST00000601514.5:c.229T>G	ENSP00000472497.1:p.Cys77Gly
NM_000540.2:c.10948T>G , LRG_766t1:c.10948T>G	NP_000531.2:p.Cys3650Gly
NM_001042723.1:c.10933T>G	NP_001036188.1:p.Cys3645Gly
XM_006723317.1:c.10948T>G	XP_006723380.1:p.Cys3650Gly
XM_006723319.1:c.10933T>G	XP_006723382.1:p.Cys3645Gly
XM_011527204.1:c.10945T>G	XP_011525506.1:p.Cys3649Gly
XM_011527205.1:c.10948T>G	XP_011525507.1:p.Cys3650Gly
XM_006723317.2:c.10948T>G	XP_006723380.1:p.Cys3650Gly
XM_006723319.2:c.10933T>G	XP_006723382.1:p.Cys3645Gly
XM_011527205.2:c.10948T>G	XP_011525507.1:p.Cys3650Gly
NM_000540.3:c.10948T>G MANE Select	NP_000531.2:p.Cys3650Gly
NM_001042723.2:c.10933T>G	NP_001036188.1:p.Cys3645Gly