Canonical Allele Identifier: CA507353412
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.38976713C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38486073C>G , CM000681.2:g.38486073C>G GRCh38
NC_000019.9:g.38976713C>G , CM000681.1:g.38976713C>G GRCh37
NC_000019.8:g.43668553C>G NCBI36
NG_008866.1:g.57374C>G , LRG_766:g.57374C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5418C>G ENSP00000471601.2:p.Ala1806=
ENST00000359596.8:c.5418C>G MANE Select ENSP00000352608.2:p.Ala1806=
ENST00000355481.8:c.5418C>G ENSP00000347667.3:p.Ala1806=
ENST00000359596.7:c.5418C>G ENSP00000352608.2:p.Ala1806=
ENST00000360985.7:c.5415C>G ENSP00000354254.4:p.Ala1805=
NM_000540.2:c.5418C>G , LRG_766t1:c.5418C>G NP_000531.2:p.Ala1806=
NM_001042723.1:c.5418C>G NP_001036188.1:p.Ala1806=
XM_006723317.1:c.5418C>G XP_006723380.1:p.Ala1806=
XM_006723319.1:c.5418C>G XP_006723382.1:p.Ala1806=
XM_011527204.1:c.5415C>G XP_011525506.1:p.Ala1805=
XM_011527205.1:c.5418C>G XP_011525507.1:p.Ala1806=
XM_006723317.2:c.5418C>G XP_006723380.1:p.Ala1806=
XM_006723319.2:c.5418C>G XP_006723382.1:p.Ala1806=
XM_011527205.2:c.5418C>G XP_011525507.1:p.Ala1806=
XR_001753735.1:n.5501C>G
NM_000540.3:c.5418C>G MANE Select NP_000531.2:p.Ala1806=
NM_001042723.2:c.5418C>G NP_001036188.1:p.Ala1806=
Search 100 bp 5'
Search 100 bp 3'