Canonical Allele Identifier: CA506118353

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs2055901097
• gnomAD v3: 19-18868753-G-T
• gnomAD v4: 19-18868753-G-T
• COSMIC: COSM3787600 ; COSM3787601
• MyVariant Identifiers: chr19:g.18979562G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868753G>T , CM000681.2:g.18868753G>T	GRCh38
NC_000019.9:g.18979562G>T , CM000681.1:g.18979562G>T	GRCh37
NC_000019.8:g.18840562G>T	NCBI36
NG_012070.1:g.32392C>A
NG_033056.1:g.32392C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*1232C>A (CERS1) MANE Select	ENSP00000485308.1:n.*1232C>A
ENST00000247005.8:c.963C>A (GDF1) MANE Select	ENSP00000247005.5:p.Arg321=
ENST00000247005.7:c.963C>A (GDF1)	ENSP00000247005.5:p.Arg321=
ENST00000623882.3:c.*1232C>A (CERS1)	ENSP00000485308.1:n.*1232C>A
ENST00000623927.1:c.963C>A (CERS1)	ENSP00000485582.1:p.Arg321=
NM_001492.5:c.963C>A (GDF1)	NP_001483.3:p.Arg321=
NM_021267.4:c.*1232C>A (CERS1)	NP_067090.1:n.*1232C>A
NM_001492.6:c.963C>A (GDF1) MANE Select	NP_001483.3:p.Arg321=
NM_021267.5:c.*1232C>A (CERS1) MANE Select	NP_067090.1:n.*1232C>A
NM_001387438.1:c.963C>A (GDF1)	NP_001374367.1:p.Arg321=
NM_001387440.1:c.*1824C>A (CERS1)	NP_001374369.1:n.*1824C>A