Canonical Allele Identifier: CA405690052

Gene: RYR1

Linked Data

• gnomAD v4: 19-38584949-C-G
• MyVariant Identifiers: chr19:g.39075589C>G (hg19) ; chr19:g.38584949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584949C>G , CM000681.2:g.38584949C>G	GRCh38
NC_000019.9:g.39075589C>G , CM000681.1:g.39075589C>G	GRCh37
NC_000019.8:g.43767429C>G	NCBI36
NG_008866.1:g.156250C>G , LRG_766:g.156250C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1589C>G
ENST00000688602.1:c.2986C>G
ENST00000689936.1:c.2958C>G
ENST00000692547.1:n.46C>G
ENST00000359596.8:c.14653C>G MANE Select	ENSP00000352608.2:p.Leu4885Val
ENST00000355481.8:c.14638C>G	ENSP00000347667.3:p.Leu4880Val
ENST00000359596.7:c.14653C>G	ENSP00000352608.2:p.Leu4885Val
ENST00000360985.7:c.14635C>G	ENSP00000354254.4:p.Leu4879Val
NM_000540.2:c.14653C>G , LRG_766t1:c.14653C>G	NP_000531.2:p.Leu4885Val
NM_001042723.1:c.14638C>G	NP_001036188.1:p.Leu4880Val
XM_006723317.1:c.14635C>G	XP_006723380.1:p.Leu4879Val
XM_006723319.1:c.14620C>G	XP_006723382.1:p.Leu4874Val
XM_011527204.1:c.14650C>G	XP_011525506.1:p.Leu4884Val
XM_011527205.1:c.14566C>G	XP_011525507.1:p.Leu4856Val
XM_006723317.2:c.14635C>G	XP_006723380.1:p.Leu4879Val
XM_006723319.2:c.14620C>G	XP_006723382.1:p.Leu4874Val
XM_011527205.2:c.14566C>G	XP_011525507.1:p.Leu4856Val
NM_000540.3:c.14653C>G MANE Select	NP_000531.2:p.Leu4885Val
NM_001042723.2:c.14638C>G	NP_001036188.1:p.Leu4880Val