Canonical Allele Identifier: CA185990

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 183023
• ClinVar RCV Id: RCV000161146
• dbSNP Id: rs200024180
• MyVariant Identifiers: chr19:g.18994937G>C (hg19) ; chr19:g.18884128G>C (hg38)
• PubMed: PMID:19243074 ; PMID:24782409

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18884128G>C , CM000681.2:g.18884128G>C	GRCh38
NC_000019.9:g.18994937G>C , CM000681.1:g.18994937G>C	GRCh37
NC_000019.8:g.18855937G>C	NCBI36
NG_012070.1:g.17017C>G
NG_033056.1:g.17017C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.549C>G (CERS1) MANE Select	ENSP00000485308.1:p.His183Gln
ENST00000247005.8:c.-774C>G (GDF1) MANE Select	ENSP00000247005.5:n.-774C>G
ENST00000247005.7:c.-774C>G (GDF1)	ENSP00000247005.5:n.-774C>G
ENST00000429504.6:c.549C>G (CERS1)	ENSP00000389044.1:p.His183Gln
ENST00000542296.6:c.255C>G (CERS1)	ENSP00000437648.1:p.His85Gln
ENST00000596048.1:c.106C>G (CERS1)
ENST00000623882.3:c.549C>G (CERS1)	ENSP00000485308.1:p.His183Gln
ENST00000623927.1:c.-774C>G (CERS1)	ENSP00000485582.1:n.-774C>G
NM_001290265.1:c.255C>G (CERS1)	NP_001277194.1:p.His85Gln
NM_001492.5:c.-774C>G (GDF1)	NP_001483.3:n.-774C>G
NM_021267.4:c.549C>G (CERS1)	NP_067090.1:p.His183Gln
NM_198207.2:c.549C>G (CERS1)	NP_937850.1:p.His183Gln
NM_001492.6:c.-774C>G (GDF1) MANE Select	NP_001483.3:n.-774C>G
NM_021267.5:c.549C>G (CERS1) MANE Select	NP_067090.1:p.His183Gln
NM_198207.3:c.549C>G (CERS1)	NP_937850.1:p.His183Gln
NM_001290265.2:c.255C>G (CERS1)	NP_001277194.1:p.His85Gln
NM_001387438.1:c.-354C>G (GDF1)	NP_001374367.1:n.-354C>G
NM_001387439.1:c.549C>G (CERS1)	NP_001374368.1:p.His183Gln
NM_001387440.1:c.549C>G (CERS1)	NP_001374369.1:p.His183Gln
NM_001387441.1:c.549C>G (CERS1)	NP_001374370.1:p.His183Gln
NM_001387442.1:c.255C>G (CERS1)	NP_001374371.1:p.His85Gln
NM_001387443.1:c.255C>G (CERS1)	NP_001374372.1:p.His85Gln
NM_001387444.1:c.255C>G (CERS1)	NP_001374373.1:p.His85Gln
NM_001387445.1:c.255C>G (CERS1)	NP_001374374.1:p.His85Gln