Canonical Allele Identifier: CA9317930

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 2577724
• ClinVar RCV Id: RCV003325061
• dbSNP Id: rs771276786
• ExAC: 19:18980094 C / T
• gnomAD v2: 19-18980094-C-T
• gnomAD v3: 19-18869285-C-T
• gnomAD v4: 19-18869285-C-T
• MyVariant Identifiers: chr19:g.18980094C>T (hg19) ; chr19:g.18869285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869285C>T , CM000681.2:g.18869285C>T	GRCh38
NC_000019.9:g.18980094C>T , CM000681.1:g.18980094C>T	GRCh37
NC_000019.8:g.18841094C>T	NCBI36
NG_012070.1:g.31860G>A
NG_033056.1:g.31860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*700G>A (CERS1) MANE Select	ENSP00000485308.1:n.*700G>A
ENST00000247005.8:c.431G>A (GDF1) MANE Select	ENSP00000247005.5:p.Arg144Gln
ENST00000247005.7:c.431G>A (GDF1)	ENSP00000247005.5:p.Arg144Gln
ENST00000623882.3:c.*700G>A (CERS1)	ENSP00000485308.1:n.*700G>A
ENST00000623927.1:c.431G>A (CERS1)	ENSP00000485582.1:p.Arg144Gln
NM_001492.5:c.431G>A (GDF1)	NP_001483.3:p.Arg144Gln
NM_021267.4:c.*700G>A (CERS1)	NP_067090.1:n.*700G>A
NM_001492.6:c.431G>A (GDF1) MANE Select	NP_001483.3:p.Arg144Gln
NM_021267.5:c.*700G>A (CERS1) MANE Select	NP_067090.1:n.*700G>A
NM_001387438.1:c.431G>A (GDF1)	NP_001374367.1:p.Arg144Gln
NM_001387440.1:c.*1292G>A (CERS1)	NP_001374369.1:n.*1292G>A