Canonical Allele Identifier: CA405687791

Gene: RYR1

Linked Data

• dbSNP Id: rs750150252
• gnomAD v3: 19-38580438-C-G
• gnomAD v4: 19-38580438-C-G
• MyVariant Identifiers: chr19:g.39071078C>G (hg19) ; chr19:g.38580438C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580438C>G , CM000681.2:g.38580438C>G	GRCh38
NC_000019.9:g.39071078C>G , CM000681.1:g.39071078C>G	GRCh37
NC_000019.8:g.43762918C>G	NCBI36
NG_008866.1:g.151739C>G , LRG_766:g.151739C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1516C>G
ENST00000688602.1:c.2913C>G
ENST00000689936.1:c.2885C>G
ENST00000359596.8:c.14580C>G MANE Select	ENSP00000352608.2:p.Phe4860Leu
ENST00000355481.8:c.14565C>G	ENSP00000347667.3:p.Phe4855Leu
ENST00000359596.7:c.14580C>G	ENSP00000352608.2:p.Phe4860Leu
ENST00000360985.7:c.14562C>G	ENSP00000354254.4:p.Phe4854Leu
NM_000540.2:c.14580C>G , LRG_766t1:c.14580C>G	NP_000531.2:p.Phe4860Leu
NM_001042723.1:c.14565C>G	NP_001036188.1:p.Phe4855Leu
XM_006723317.1:c.14562C>G	XP_006723380.1:p.Phe4854Leu
XM_006723319.1:c.14547C>G	XP_006723382.1:p.Phe4849Leu
XM_011527204.1:c.14577C>G	XP_011525506.1:p.Phe4859Leu
XM_011527205.1:c.14493C>G	XP_011525507.1:p.Phe4831Leu
XM_006723317.2:c.14562C>G	XP_006723380.1:p.Phe4854Leu
XM_006723319.2:c.14547C>G	XP_006723382.1:p.Phe4849Leu
XM_011527205.2:c.14493C>G	XP_011525507.1:p.Phe4831Leu
NM_000540.3:c.14580C>G MANE Select	NP_000531.2:p.Phe4860Leu
NM_001042723.2:c.14565C>G	NP_001036188.1:p.Phe4855Leu