Canonical Allele Identifier: CA404862186

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs1233479729
• gnomAD v4: 19-18868842-G-C
• MyVariant Identifiers: chr19:g.18979651G>C (hg19) ; chr19:g.18868842G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868842G>C , CM000681.2:g.18868842G>C	GRCh38
NC_000019.9:g.18979651G>C , CM000681.1:g.18979651G>C	GRCh37
NC_000019.8:g.18840651G>C	NCBI36
NG_012070.1:g.32303C>G
NG_033056.1:g.32303C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*1143C>G (CERS1) MANE Select	ENSP00000485308.1:n.*1143C>G
ENST00000247005.8:c.874C>G (GDF1) MANE Select	ENSP00000247005.5:p.Leu292Val
ENST00000247005.7:c.874C>G (GDF1)	ENSP00000247005.5:p.Leu292Val
ENST00000623882.3:c.*1143C>G (CERS1)	ENSP00000485308.1:n.*1143C>G
ENST00000623927.1:c.874C>G (CERS1)	ENSP00000485582.1:p.Leu292Val
NM_001492.5:c.874C>G (GDF1)	NP_001483.3:p.Leu292Val
NM_021267.4:c.*1143C>G (CERS1)	NP_067090.1:n.*1143C>G
NM_001492.6:c.874C>G (GDF1) MANE Select	NP_001483.3:p.Leu292Val
NM_021267.5:c.*1143C>G (CERS1) MANE Select	NP_067090.1:n.*1143C>G
NM_001387438.1:c.874C>G (GDF1)	NP_001374367.1:p.Leu292Val
NM_001387440.1:c.*1735C>G (CERS1)	NP_001374369.1:n.*1735C>G