Canonical Allele Identifier: CA247596

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 6749
• ClinVar RCV Id: RCV000007141 ; RCV000180221 ; RCV003924808
• dbSNP Id: rs121434424
• ExAC: 19:18980040 C / T
• gnomAD v2: 19-18980040-C-T
• gnomAD v3: 19-18869231-C-T
• gnomAD v4: 19-18869231-C-T
• MyVariant Identifiers: chr19:g.18980040C>T (hg19) ; chr19:g.18869231C>T (hg38)
• PubMed: PMID:17924340 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869231C>T , CM000681.2:g.18869231C>T	GRCh38
NC_000019.9:g.18980040C>T , CM000681.1:g.18980040C>T	GRCh37
NC_000019.8:g.18841040C>T	NCBI36
NG_012070.1:g.31914G>A
NG_033056.1:g.31914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*754G>A (CERS1) MANE Select	ENSP00000485308.1:n.*754G>A
ENST00000247005.8:c.485G>A (GDF1) MANE Select	ENSP00000247005.5:p.Gly162Asp
ENST00000247005.7:c.485G>A (GDF1)	ENSP00000247005.5:p.Gly162Asp
ENST00000623882.3:c.*754G>A (CERS1)	ENSP00000485308.1:n.*754G>A
ENST00000623927.1:c.485G>A (CERS1)	ENSP00000485582.1:p.Gly162Asp
NM_001492.5:c.485G>A (GDF1)	NP_001483.3:p.Gly162Asp
NM_021267.4:c.*754G>A (CERS1)	NP_067090.1:n.*754G>A
NM_001492.6:c.485G>A (GDF1) MANE Select	NP_001483.3:p.Gly162Asp
NM_021267.5:c.*754G>A (CERS1) MANE Select	NP_067090.1:n.*754G>A
NM_001387438.1:c.485G>A (GDF1)	NP_001374367.1:p.Gly162Asp
NM_001387440.1:c.*1346G>A (CERS1)	NP_001374369.1:n.*1346G>A