Canonical Allele Identifier: CA9091472

Gene: CREB3L3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4168457G>A , CM000681.2:g.4168457G>A	GRCh38
NC_000019.9:g.4168454G>A , CM000681.1:g.4168454G>A	GRCh37
NC_000019.8:g.4119454G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000078445.7:c.821G>A MANE Select	ENSP00000078445.1:p.Arg274Gln
ENST00000078445.6:c.821G>A	ENSP00000078445.1:p.Arg274Gln
ENST00000595923.5:c.818G>A	ENSP00000469355.1:p.Arg273Gln
ENST00000598894.1:n.305G>A
ENST00000602147.1:c.715-1683G>A	ENSP00000470119.1:n.715-1683G>A
ENST00000602257.5:c.815G>A	ENSP00000472399.1:p.Arg272Gln
NM_001271995.1:c.818G>A	NP_001258924.1:p.Arg273Gln
NM_001271996.1:c.815G>A	NP_001258925.1:p.Arg272Gln
NM_001271997.1:c.715-1683G>A	NP_001258926.1:n.715-1683G>A
NM_032607.2:c.821G>A	NP_115996.1:p.Arg274Gln
NM_032607.3:c.821G>A MANE Select	NP_115996.1:p.Arg274Gln
NM_001271995.2:c.818G>A	NP_001258924.1:p.Arg273Gln
NM_001271996.2:c.815G>A	NP_001258925.1:p.Arg272Gln
NM_001271997.2:c.715-1683G>A	NP_001258926.1:n.715-1683G>A