Canonical Allele Identifier: CA405685186
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578169-C-T
MyVariant Identifiers: chr19:g.39068809C>T (hg19) chr19:g.38578169C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578169C>T , CM000681.2:g.38578169C>T GRCh38
NC_000019.9:g.39068809C>T , CM000681.1:g.39068809C>T GRCh37
NC_000019.8:g.43760649C>T NCBI36
NG_008866.1:g.149470C>T , LRG_766:g.149470C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1265C>T
ENST00000688602.1:c.2662C>T
ENST00000689936.1:c.2634C>T
ENST00000359596.8:c.14329C>T MANE Select ENSP00000352608.2:p.Gln4777Ter
ENST00000355481.8:c.14314C>T ENSP00000347667.3:p.Gln4772Ter
ENST00000359596.7:c.14329C>T ENSP00000352608.2:p.Gln4777Ter
ENST00000360985.7:c.14311C>T ENSP00000354254.4:p.Gln4771Ter
NM_000540.2:c.14329C>T , LRG_766t1:c.14329C>T NP_000531.2:p.Gln4777Ter
NM_001042723.1:c.14314C>T NP_001036188.1:p.Gln4772Ter
XM_006723317.1:c.14311C>T XP_006723380.1:p.Gln4771Ter
XM_006723319.1:c.14296C>T XP_006723382.1:p.Gln4766Ter
XM_011527204.1:c.14326C>T XP_011525506.1:p.Gln4776Ter
XM_011527205.1:c.14242C>T XP_011525507.1:p.Gln4748Ter
XM_006723317.2:c.14311C>T XP_006723380.1:p.Gln4771Ter
XM_006723319.2:c.14296C>T XP_006723382.1:p.Gln4766Ter
XM_011527205.2:c.14242C>T XP_011525507.1:p.Gln4748Ter
NM_000540.3:c.14329C>T MANE Select NP_000531.2:p.Gln4777Ter
NM_001042723.2:c.14314C>T NP_001036188.1:p.Gln4772Ter
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