Canonical Allele Identifier: CA404862982

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18869168-A-G
• MyVariant Identifiers: chr19:g.18979977A>G (hg19) ; chr19:g.18869168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869168A>G , CM000681.2:g.18869168A>G	GRCh38
NC_000019.9:g.18979977A>G , CM000681.1:g.18979977A>G	GRCh37
NC_000019.8:g.18840977A>G	NCBI36
NG_012070.1:g.31977T>C
NG_033056.1:g.31977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*817T>C (CERS1) MANE Select	ENSP00000485308.1:n.*817T>C
ENST00000247005.8:c.548T>C (GDF1) MANE Select	ENSP00000247005.5:p.Leu183Pro
ENST00000247005.7:c.548T>C (GDF1)	ENSP00000247005.5:p.Leu183Pro
ENST00000623882.3:c.*817T>C (CERS1)	ENSP00000485308.1:n.*817T>C
ENST00000623927.1:c.548T>C (CERS1)	ENSP00000485582.1:p.Leu183Pro
NM_001492.5:c.548T>C (GDF1)	NP_001483.3:p.Leu183Pro
NM_021267.4:c.*817T>C (CERS1)	NP_067090.1:n.*817T>C
NM_001492.6:c.548T>C (GDF1) MANE Select	NP_001483.3:p.Leu183Pro
NM_021267.5:c.*817T>C (CERS1) MANE Select	NP_067090.1:n.*817T>C
NM_001387438.1:c.548T>C (GDF1)	NP_001374367.1:p.Leu183Pro
NM_001387440.1:c.*1409T>C (CERS1)	NP_001374369.1:n.*1409T>C