Canonical Allele Identifier: CA304461976

Gene: CREB3L3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4157208C>T , CM000681.2:g.4157208C>T	GRCh38
NC_000019.9:g.4157205C>T , CM000681.1:g.4157205C>T	GRCh37
NC_000019.8:g.4108205C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032607.3:c.370C>T MANE Select	NP_115996.1:p.Leu124Phe
ENST00000078445.7:c.370C>T MANE Select	ENSP00000078445.1:p.Leu124Phe
NM_001271995.1:c.367C>T	NP_001258924.1:p.Leu123Phe
NM_001271995.2:c.367C>T	NP_001258924.1:p.Leu123Phe
NM_001271996.1:c.370C>T	NP_001258925.1:p.Leu124Phe
NM_001271996.2:c.370C>T	NP_001258925.1:p.Leu124Phe
NM_001271997.1:c.370C>T	NP_001258926.1:p.Leu124Phe
NM_001271997.2:c.370C>T	NP_001258926.1:p.Leu124Phe
NM_032607.2:c.370C>T	NP_115996.1:p.Leu124Phe
ENST00000078445.6:c.370C>T	ENSP00000078445.1:p.Leu124Phe
ENST00000595923.5:c.367C>T	ENSP00000469355.1:p.Leu123Phe
ENST00000602147.1:c.370C>T	ENSP00000470119.1:p.Leu124Phe
ENST00000602257.5:c.370C>T	ENSP00000472399.1:p.Leu124Phe