Canonical Allele Identifier: CA504989139
Gene: CREB3L3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4164613C>T , CM000681.2:g.4164613C>T GRCh38
NC_000019.9:g.4164610C>T , CM000681.1:g.4164610C>T GRCh37
NC_000019.8:g.4115610C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000078445.7:c.687C>T MANE Select ENSP00000078445.1:p.Thr229=
ENST00000078445.6:c.687C>T ENSP00000078445.1:p.Thr229=
ENST00000595923.5:c.684C>T ENSP00000469355.1:p.Thr228=
ENST00000598894.1:n.171C>T
ENST00000602147.1:c.687C>T ENSP00000470119.1:p.Thr229=
ENST00000602257.5:c.681C>T ENSP00000472399.1:p.Thr227=
NM_001271995.1:c.684C>T NP_001258924.1:p.Thr228=
NM_001271996.1:c.681C>T NP_001258925.1:p.Thr227=
NM_001271997.1:c.687C>T NP_001258926.1:p.Thr229=
NM_032607.2:c.687C>T NP_115996.1:p.Thr229=
NM_032607.3:c.687C>T MANE Select NP_115996.1:p.Thr229=
NM_001271995.2:c.684C>T NP_001258924.1:p.Thr228=
NM_001271996.2:c.681C>T NP_001258925.1:p.Thr227=
NM_001271997.2:c.687C>T NP_001258926.1:p.Thr229=