Canonical Allele Identifier: CA9317939

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869344G>A , CM000681.2:g.18869344G>A	GRCh38
NC_000019.9:g.18980153G>A , CM000681.1:g.18980153G>A	GRCh37
NC_000019.8:g.18841153G>A	NCBI36
NG_012070.1:g.31801C>T
NG_033056.1:g.31801C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001492.6:c.372C>T (GDF1) MANE Select	NP_001483.3:p.Cys124=
NM_021267.5:c.*641C>T (CERS1) MANE Select	NP_067090.1:n.*641C>T
ENST00000247005.8:c.372C>T (GDF1) MANE Select	ENSP00000247005.5:p.Cys124=
ENST00000623882.4:c.*641C>T (CERS1) MANE Select	ENSP00000485308.1:n.*641C>T
NM_001387438.1:c.372C>T (GDF1)	NP_001374367.1:p.Cys124=
NM_001387440.1:c.*1233C>T (CERS1)	NP_001374369.1:n.*1233C>T
NM_001492.5:c.372C>T (GDF1)	NP_001483.3:p.Cys124=
NM_021267.4:c.*641C>T (CERS1)	NP_067090.1:n.*641C>T
ENST00000247005.7:c.372C>T (GDF1)	ENSP00000247005.5:p.Cys124=
ENST00000623882.3:c.*641C>T (CERS1)	ENSP00000485308.1:n.*641C>T
ENST00000623927.1:c.372C>T (CERS1)	ENSP00000485582.1:p.Cys124=