Canonical Allele Identifier: CA9317933

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 1101641
• ClinVar RCV Id: RCV002555125 ; RCV004038220
• dbSNP Id: rs765449212
• ExAC: 19:18980113 G / T
• gnomAD v2: 19-18980113-G-T
• gnomAD v3: 19-18869304-G-T
• gnomAD v4: 19-18869304-G-T
• MyVariant Identifiers: chr19:g.18980113G>T (hg19) ; chr19:g.18869304G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869304G>T , CM000681.2:g.18869304G>T	GRCh38
NC_000019.9:g.18980113G>T , CM000681.1:g.18980113G>T	GRCh37
NC_000019.8:g.18841113G>T	NCBI36
NG_012070.1:g.31841C>A
NG_033056.1:g.31841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*681C>A (CERS1) MANE Select	ENSP00000485308.1:n.*681C>A
ENST00000247005.8:c.412C>A (GDF1) MANE Select	ENSP00000247005.5:p.Pro138Thr
ENST00000247005.7:c.412C>A (GDF1)	ENSP00000247005.5:p.Pro138Thr
ENST00000623882.3:c.*681C>A (CERS1)	ENSP00000485308.1:n.*681C>A
ENST00000623927.1:c.412C>A (CERS1)	ENSP00000485582.1:p.Pro138Thr
NM_001492.5:c.412C>A (GDF1)	NP_001483.3:p.Pro138Thr
NM_021267.4:c.*681C>A (CERS1)	NP_067090.1:n.*681C>A
NM_001492.6:c.412C>A (GDF1) MANE Select	NP_001483.3:p.Pro138Thr
NM_021267.5:c.*681C>A (CERS1) MANE Select	NP_067090.1:n.*681C>A
NM_001387438.1:c.412C>A (GDF1)	NP_001374367.1:p.Pro138Thr
NM_001387440.1:c.*1273C>A (CERS1)	NP_001374369.1:n.*1273C>A