Canonical Allele Identifier: CA404862650

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869067G>C , CM000681.2:g.18869067G>C	GRCh38
NC_000019.9:g.18979876G>C , CM000681.1:g.18979876G>C	GRCh37
NC_000019.8:g.18840876G>C	NCBI36
NG_012070.1:g.32078C>G
NG_033056.1:g.32078C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001492.6:c.649C>G (GDF1) MANE Select	NP_001483.3:p.Leu217Val
NM_021267.5:c.*918C>G (CERS1) MANE Select	NP_067090.1:n.*918C>G
ENST00000247005.8:c.649C>G (GDF1) MANE Select	ENSP00000247005.5:p.Leu217Val
ENST00000623882.4:c.*918C>G (CERS1) MANE Select	ENSP00000485308.1:n.*918C>G
NM_001387438.1:c.649C>G (GDF1)	NP_001374367.1:p.Leu217Val
NM_001387440.1:c.*1510C>G (CERS1)	NP_001374369.1:n.*1510C>G
NM_001492.5:c.649C>G (GDF1)	NP_001483.3:p.Leu217Val
NM_021267.4:c.*918C>G (CERS1)	NP_067090.1:n.*918C>G
ENST00000247005.7:c.649C>G (GDF1)	ENSP00000247005.5:p.Leu217Val
ENST00000623882.3:c.*918C>G (CERS1)	ENSP00000485308.1:n.*918C>G
ENST00000623927.1:c.649C>G (CERS1)	ENSP00000485582.1:p.Leu217Val