Canonical Allele Identifier: CA405687738

Gene: RYR1

Linked Data

• ClinVar Variation Id: 451444
• ClinVar RCV Id: RCV000520618 ; RCV001205845
• dbSNP Id: rs1555803933
• gnomAD v4: 19-38580431-A-G
• MyVariant Identifiers: chr19:g.39071071A>G (hg19) ; chr19:g.38580431A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580431A>G , CM000681.2:g.38580431A>G	GRCh38
NC_000019.9:g.39071071A>G , CM000681.1:g.39071071A>G	GRCh37
NC_000019.8:g.43762911A>G	NCBI36
NG_008866.1:g.151732A>G , LRG_766:g.151732A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1509A>G
ENST00000688602.1:c.2906A>G
ENST00000689936.1:c.2878A>G
ENST00000359596.8:c.14573A>G MANE Select	ENSP00000352608.2:p.Asn4858Ser
ENST00000355481.8:c.14558A>G	ENSP00000347667.3:p.Asn4853Ser
ENST00000359596.7:c.14573A>G	ENSP00000352608.2:p.Asn4858Ser
ENST00000360985.7:c.14555A>G	ENSP00000354254.4:p.Asn4852Ser
NM_000540.2:c.14573A>G , LRG_766t1:c.14573A>G	NP_000531.2:p.Asn4858Ser
NM_001042723.1:c.14558A>G	NP_001036188.1:p.Asn4853Ser
XM_006723317.1:c.14555A>G	XP_006723380.1:p.Asn4852Ser
XM_006723319.1:c.14540A>G	XP_006723382.1:p.Asn4847Ser
XM_011527204.1:c.14570A>G	XP_011525506.1:p.Asn4857Ser
XM_011527205.1:c.14486A>G	XP_011525507.1:p.Asn4829Ser
XM_006723317.2:c.14555A>G	XP_006723380.1:p.Asn4852Ser
XM_006723319.2:c.14540A>G	XP_006723382.1:p.Asn4847Ser
XM_011527205.2:c.14486A>G	XP_011525507.1:p.Asn4829Ser
NM_000540.3:c.14573A>G MANE Select	NP_000531.2:p.Asn4858Ser
NM_001042723.2:c.14558A>G	NP_001036188.1:p.Asn4853Ser