Canonical Allele Identifier: CA404862179

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 2396179
• ClinVar RCV Id: RCV003420521 ; RCV004230851
• dbSNP Id: rs1394561582
• gnomAD v2: 19-18979647-G-A
• gnomAD v3: 19-18868838-G-A
• gnomAD v4: 19-18868838-G-A
• MyVariant Identifiers: chr19:g.18979647G>A (hg19) ; chr19:g.18868838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868838G>A , CM000681.2:g.18868838G>A	GRCh38
NC_000019.9:g.18979647G>A , CM000681.1:g.18979647G>A	GRCh37
NC_000019.8:g.18840647G>A	NCBI36
NG_012070.1:g.32307C>T
NG_033056.1:g.32307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*1147C>T (CERS1) MANE Select	ENSP00000485308.1:n.*1147C>T
ENST00000247005.8:c.878C>T (GDF1) MANE Select	ENSP00000247005.5:p.Ala293Val
ENST00000247005.7:c.878C>T (GDF1)	ENSP00000247005.5:p.Ala293Val
ENST00000623882.3:c.*1147C>T (CERS1)	ENSP00000485308.1:n.*1147C>T
ENST00000623927.1:c.878C>T (CERS1)	ENSP00000485582.1:p.Ala293Val
NM_001492.5:c.878C>T (GDF1)	NP_001483.3:p.Ala293Val
NM_021267.4:c.*1147C>T (CERS1)	NP_067090.1:n.*1147C>T
NM_001492.6:c.878C>T (GDF1) MANE Select	NP_001483.3:p.Ala293Val
NM_021267.5:c.*1147C>T (CERS1) MANE Select	NP_067090.1:n.*1147C>T
NM_001387438.1:c.878C>T (GDF1)	NP_001374367.1:p.Ala293Val
NM_001387440.1:c.*1739C>T (CERS1)	NP_001374369.1:n.*1739C>T