Canonical Allele Identifier: CA404862060

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 2629019
• ClinVar RCV Id: RCV003399783
• dbSNP Id: rs1568289554
• gnomAD v2: 19-18979591-G-C
• gnomAD v3: 19-18868782-G-C
• gnomAD v4: 19-18868782-G-C
• MyVariant Identifiers: chr19:g.18979591G>C (hg19) ; chr19:g.18979591_18979592delinsCC (hg19) ; chr19:g.18868782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868782G>C , CM000681.2:g.18868782G>C	GRCh38
NC_000019.9:g.18979591G>C , CM000681.1:g.18979591G>C	GRCh37
NC_000019.8:g.18840591G>C	NCBI36
NG_012070.1:g.32363C>G
NG_033056.1:g.32363C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*1203C>G (CERS1) MANE Select	ENSP00000485308.1:n.*1203C>G
ENST00000247005.8:c.934C>G (GDF1) MANE Select	ENSP00000247005.5:p.Pro312Ala
ENST00000247005.7:c.934C>G (GDF1)	ENSP00000247005.5:p.Pro312Ala
ENST00000623882.3:c.*1203C>G (CERS1)	ENSP00000485308.1:n.*1203C>G
ENST00000623927.1:c.934C>G (CERS1)	ENSP00000485582.1:p.Pro312Ala
NM_001492.5:c.934C>G (GDF1)	NP_001483.3:p.Pro312Ala
NM_021267.4:c.*1203C>G (CERS1)	NP_067090.1:n.*1203C>G
NM_001492.6:c.934C>G (GDF1) MANE Select	NP_001483.3:p.Pro312Ala
NM_021267.5:c.*1203C>G (CERS1) MANE Select	NP_067090.1:n.*1203C>G
NM_001387438.1:c.934C>G (GDF1)	NP_001374367.1:p.Pro312Ala
NM_001387440.1:c.*1795C>G (CERS1)	NP_001374369.1:n.*1795C>G