Canonical Allele Identifier: CA403405744

Gene: CREB3L3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4168375A>T , CM000681.2:g.4168375A>T	GRCh38
NC_000019.9:g.4168372A>T , CM000681.1:g.4168372A>T	GRCh37
NC_000019.8:g.4119372A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032607.3:c.739A>T MANE Select	NP_115996.1:p.Ile247Phe
ENST00000078445.7:c.739A>T MANE Select	ENSP00000078445.1:p.Ile247Phe
NM_001271995.1:c.736A>T	NP_001258924.1:p.Ile246Phe
NM_001271995.2:c.736A>T	NP_001258924.1:p.Ile246Phe
NM_001271996.1:c.733A>T	NP_001258925.1:p.Ile245Phe
NM_001271996.2:c.733A>T	NP_001258925.1:p.Ile245Phe
NM_001271997.1:c.715-1765A>T	NP_001258926.1:n.715-1765A>T
NM_001271997.2:c.715-1765A>T	NP_001258926.1:n.715-1765A>T
NM_032607.2:c.739A>T	NP_115996.1:p.Ile247Phe
ENST00000078445.6:c.739A>T	ENSP00000078445.1:p.Ile247Phe
ENST00000595923.5:c.736A>T	ENSP00000469355.1:p.Ile246Phe
ENST00000598894.1:n.223A>T
ENST00000602147.1:c.715-1765A>T	ENSP00000470119.1:n.715-1765A>T
ENST00000602257.5:c.733A>T	ENSP00000472399.1:p.Ile245Phe