Canonical Allele Identifier: CA057545

Gene: RYR1

Linked Data

• ClinVar Variation Id: 3074186
• ClinVar RCV Id: RCV004012728
• dbSNP Id: rs141803364
• ExAC: 19:39034020 A / G
• gnomAD v2: 19-39034020-A-G
• gnomAD v4: 19-38543380-A-G
• MyVariant Identifiers: chr19:g.39034020A>G (hg19) ; chr19:g.38543380A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543380A>G , CM000681.2:g.38543380A>G	GRCh38
NC_000019.9:g.39034020A>G , CM000681.1:g.39034020A>G	GRCh37
NC_000019.8:g.43725860A>G	NCBI36
NG_008866.1:g.114681A>G , LRG_766:g.114681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.133A>G
ENST00000689936.1:c.115A>G
ENST00000359596.8:c.11723A>G MANE Select	ENSP00000352608.2:p.Asn3908Ser
ENST00000355481.8:c.11708A>G	ENSP00000347667.3:p.Asn3903Ser
ENST00000359596.7:c.11723A>G	ENSP00000352608.2:p.Asn3908Ser
ENST00000360985.7:c.11705A>G	ENSP00000354254.4:p.Asn3902Ser
ENST00000593322.1:c.332A>G
ENST00000594335.5:c.5092A>G
NM_000540.2:c.11723A>G , LRG_766t1:c.11723A>G	NP_000531.2:p.Asn3908Ser
NM_001042723.1:c.11708A>G	NP_001036188.1:p.Asn3903Ser
XM_006723317.1:c.11705A>G	XP_006723380.1:p.Asn3902Ser
XM_006723319.1:c.11690A>G	XP_006723382.1:p.Asn3897Ser
XM_011527204.1:c.11720A>G	XP_011525506.1:p.Asn3907Ser
XM_011527205.1:c.11723A>G	XP_011525507.1:p.Asn3908Ser
XM_006723317.2:c.11705A>G	XP_006723380.1:p.Asn3902Ser
XM_006723319.2:c.11690A>G	XP_006723382.1:p.Asn3897Ser
XM_011527205.2:c.11723A>G	XP_011525507.1:p.Asn3908Ser
NM_000540.3:c.11723A>G MANE Select	NP_000531.2:p.Asn3908Ser
NM_001042723.2:c.11708A>G	NP_001036188.1:p.Asn3903Ser