Canonical Allele Identifier: CA404862129

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18868818-A-G
• MyVariant Identifiers: chr19:g.18979627A>G (hg19) ; chr19:g.18868818A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868818A>G , CM000681.2:g.18868818A>G	GRCh38
NC_000019.9:g.18979627A>G , CM000681.1:g.18979627A>G	GRCh37
NC_000019.8:g.18840627A>G	NCBI36
NG_012070.1:g.32327T>C
NG_033056.1:g.32327T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000623882.4:c.*1167T>C (CERS1) MANE Select	ENSP00000485308.1:n.*1167T>C
ENST00000247005.8:c.898T>C (GDF1) MANE Select	ENSP00000247005.5:p.Cys300Arg
ENST00000247005.7:c.898T>C (GDF1)	ENSP00000247005.5:p.Cys300Arg
ENST00000623882.3:c.*1167T>C (CERS1)	ENSP00000485308.1:n.*1167T>C
ENST00000623927.1:c.898T>C (CERS1)	ENSP00000485582.1:p.Cys300Arg
NM_001492.5:c.898T>C (GDF1)	NP_001483.3:p.Cys300Arg
NM_021267.4:c.*1167T>C (CERS1)	NP_067090.1:n.*1167T>C
NM_001492.6:c.898T>C (GDF1) MANE Select	NP_001483.3:p.Cys300Arg
NM_021267.5:c.*1167T>C (CERS1) MANE Select	NP_067090.1:n.*1167T>C
NM_001387438.1:c.898T>C (GDF1)	NP_001374367.1:p.Cys300Arg
NM_001387440.1:c.*1759T>C (CERS1)	NP_001374369.1:n.*1759T>C