Canonical Allele Identifier: CA2326567506

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868731G= , CM000681.2:g.18868731G=	GRCh38
NC_000019.9:g.18979540G= , CM000681.1:g.18979540G=	GRCh37
NC_000019.8:g.18840540G=	NCBI36
NG_012070.1:g.32414C=
NG_033056.1:g.32414C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*1254C= (CERS1) MANE Select	ENSP00000485308.1:n.*1254C=
ENST00000247005.8:c.985C= (GDF1) MANE Select	ENSP00000247005.5:p.Pro329=
ENST00000247005.7:c.985C= (GDF1)	ENSP00000247005.5:p.Pro329=
ENST00000623882.3:c.*1254C= (CERS1)	ENSP00000485308.1:n.*1254C=
ENST00000623927.1:c.985C= (CERS1)	ENSP00000485582.1:p.Pro329=
NM_001492.5:c.985C= (GDF1)	NP_001483.3:p.Pro329=
NM_021267.4:c.*1254C= (CERS1)	NP_067090.1:n.*1254C=
NM_001492.6:c.985C= (GDF1) MANE Select	NP_001483.3:p.Pro329=
NM_021267.5:c.*1254C= (CERS1) MANE Select	NP_067090.1:n.*1254C=
NM_001387438.1:c.985C= (GDF1)	NP_001374367.1:p.Pro329=
NM_001387440.1:c.*1846C= (CERS1)	NP_001374369.1:n.*1846C=