Canonical Allele Identifier: CA405649697

Gene: RYR1

Linked Data

• dbSNP Id: rs1167987822
• gnomAD v2: 19-39019249-T-A
• gnomAD v4: 19-38528609-T-A
• MyVariant Identifiers: chr19:g.39019249T>A (hg19) ; chr19:g.38528609T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.10887T>A	ENSP00000471601.2:n.10887T>A
ENST00000359596.8:c.10948T>A MANE Select	ENSP00000352608.2:p.Cys3650Ser
ENST00000355481.8:c.10933T>A	ENSP00000347667.3:p.Cys3645Ser
ENST00000359596.7:c.10948T>A	ENSP00000352608.2:p.Cys3650Ser
ENST00000360985.7:c.10930T>A	ENSP00000354254.4:p.Cys3644Ser
ENST00000594335.5:c.4335T>A
ENST00000599547.5:c.1755T>A
ENST00000601514.5:c.229T>A	ENSP00000472497.1:p.Cys77Ser
NM_000540.2:c.10948T>A , LRG_766t1:c.10948T>A	NP_000531.2:p.Cys3650Ser
NM_001042723.1:c.10933T>A	NP_001036188.1:p.Cys3645Ser
XM_006723317.1:c.10948T>A	XP_006723380.1:p.Cys3650Ser
XM_006723319.1:c.10933T>A	XP_006723382.1:p.Cys3645Ser
XM_011527204.1:c.10945T>A	XP_011525506.1:p.Cys3649Ser
XM_011527205.1:c.10948T>A	XP_011525507.1:p.Cys3650Ser
XM_006723317.2:c.10948T>A	XP_006723380.1:p.Cys3650Ser
XM_006723319.2:c.10933T>A	XP_006723382.1:p.Cys3645Ser
XM_011527205.2:c.10948T>A	XP_011525507.1:p.Cys3650Ser
NM_000540.3:c.10948T>A MANE Select	NP_000531.2:p.Cys3650Ser
NM_001042723.2:c.10933T>A	NP_001036188.1:p.Cys3645Ser