Canonical Allele Identifier: CA2335095510
Community Standard Title: NM_000540.3(RYR1):c.14868+5G=
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38586007G= , CM000681.2:g.38586007G= GRCh38
NC_000019.9:g.39076647G= , CM000681.1:g.39076647G= GRCh37
NC_000019.8:g.43768487G= NCBI36
NG_008866.1:g.157308G= , LRG_766:g.157308G=

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14868+5G= MANE Select NP_000531.2:n.14868+5G=
ENST00000359596.8:c.14868+5G= MANE Select ENSP00000352608.2:n.14868+5G=
NM_000540.2:c.14868+5G= , LRG_766t1:c.14868+5G= NP_000531.2:n.14868+5G=
NM_001042723.1:c.14853+5G= NP_001036188.1:n.14853+5G=
NM_001042723.2:c.14853+5G= NP_001036188.1:n.14853+5G=
ENST00000355481.8:c.14853+5G= ENSP00000347667.3:n.14853+5G=
ENST00000359596.7:c.14868+5G= ENSP00000352608.2:n.14868+5G=
ENST00000360985.7:c.14850+5G= ENSP00000354254.4:n.14850+5G=
ENST00000593677.2:c.1804+5G=
ENST00000688602.1:c.3201+5G=
ENST00000689936.1:c.3173+5G=
ENST00000692547.1:n.261+5G=
XM_006723317.1:c.14850+5G= XP_006723380.1:n.14850+5G=
XM_006723317.2:c.14850+5G= XP_006723380.1:n.14850+5G=
XM_006723319.1:c.14835+5G= XP_006723382.1:n.14835+5G=
XM_006723319.2:c.14835+5G= XP_006723382.1:n.14835+5G=
XM_011527204.1:c.14865+5G= XP_011525506.1:n.14865+5G=
XM_011527205.1:c.14781+5G= XP_011525507.1:n.14781+5G=
XM_011527205.2:c.14781+5G= XP_011525507.1:n.14781+5G=
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