Canonical Allele Identifier: CA2326567512

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868741G= , CM000681.2:g.18868741G=	GRCh38
NC_000019.9:g.18979550G= , CM000681.1:g.18979550G=	GRCh37
NC_000019.8:g.18840550G=	NCBI36
NG_012070.1:g.32404C=
NG_033056.1:g.32404C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*1244C= (CERS1) MANE Select	ENSP00000485308.1:n.*1244C=
ENST00000247005.8:c.975C= (GDF1) MANE Select	ENSP00000247005.5:p.His325=
ENST00000247005.7:c.975C= (GDF1)	ENSP00000247005.5:p.His325=
ENST00000623882.3:c.*1244C= (CERS1)	ENSP00000485308.1:n.*1244C=
ENST00000623927.1:c.975C= (CERS1)	ENSP00000485582.1:p.His325=
NM_001492.5:c.975C= (GDF1)	NP_001483.3:p.His325=
NM_021267.4:c.*1244C= (CERS1)	NP_067090.1:n.*1244C=
NM_001492.6:c.975C= (GDF1) MANE Select	NP_001483.3:p.His325=
NM_021267.5:c.*1244C= (CERS1) MANE Select	NP_067090.1:n.*1244C=
NM_001387438.1:c.975C= (GDF1)	NP_001374367.1:p.His325=
NM_001387440.1:c.*1836C= (CERS1)	NP_001374369.1:n.*1836C=