Canonical Allele Identifier: CA404862881

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18869138-G-C
• MyVariant Identifiers: chr19:g.18979947G>C (hg19) ; chr19:g.18869138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869138G>C , CM000681.2:g.18869138G>C	GRCh38
NC_000019.9:g.18979947G>C , CM000681.1:g.18979947G>C	GRCh37
NC_000019.8:g.18840947G>C	NCBI36
NG_012070.1:g.32007C>G
NG_033056.1:g.32007C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*847C>G (CERS1) MANE Select	ENSP00000485308.1:n.*847C>G
ENST00000247005.8:c.578C>G (GDF1) MANE Select	ENSP00000247005.5:p.Pro193Arg
ENST00000247005.7:c.578C>G (GDF1)	ENSP00000247005.5:p.Pro193Arg
ENST00000623882.3:c.*847C>G (CERS1)	ENSP00000485308.1:n.*847C>G
ENST00000623927.1:c.578C>G (CERS1)	ENSP00000485582.1:p.Pro193Arg
NM_001492.5:c.578C>G (GDF1)	NP_001483.3:p.Pro193Arg
NM_021267.4:c.*847C>G (CERS1)	NP_067090.1:n.*847C>G
NM_001492.6:c.578C>G (GDF1) MANE Select	NP_001483.3:p.Pro193Arg
NM_021267.5:c.*847C>G (CERS1) MANE Select	NP_067090.1:n.*847C>G
NM_001387438.1:c.578C>G (GDF1)	NP_001374367.1:p.Pro193Arg
NM_001387440.1:c.*1439C>G (CERS1)	NP_001374369.1:n.*1439C>G