Canonical Allele Identifier: CA404863072

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs2145986213
• gnomAD v4: 19-18869195-G-A
• MyVariant Identifiers: chr19:g.18980004G>A (hg19) ; chr19:g.18869195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869195G>A , CM000681.2:g.18869195G>A	GRCh38
NC_000019.9:g.18980004G>A , CM000681.1:g.18980004G>A	GRCh37
NC_000019.8:g.18841004G>A	NCBI36
NG_012070.1:g.31950C>T
NG_033056.1:g.31950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*790C>T (CERS1) MANE Select	ENSP00000485308.1:n.*790C>T
ENST00000247005.8:c.521C>T (GDF1) MANE Select	ENSP00000247005.5:p.Ala174Val
ENST00000247005.7:c.521C>T (GDF1)	ENSP00000247005.5:p.Ala174Val
ENST00000623882.3:c.*790C>T (CERS1)	ENSP00000485308.1:n.*790C>T
ENST00000623927.1:c.521C>T (CERS1)	ENSP00000485582.1:p.Ala174Val
NM_001492.5:c.521C>T (GDF1)	NP_001483.3:p.Ala174Val
NM_021267.4:c.*790C>T (CERS1)	NP_067090.1:n.*790C>T
NM_001492.6:c.521C>T (GDF1) MANE Select	NP_001483.3:p.Ala174Val
NM_021267.5:c.*790C>T (CERS1) MANE Select	NP_067090.1:n.*790C>T
NM_001387438.1:c.521C>T (GDF1)	NP_001374367.1:p.Ala174Val
NM_001387440.1:c.*1382C>T (CERS1)	NP_001374369.1:n.*1382C>T