Canonical Allele Identifier: CA404863094

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18869200-C-A
• MyVariant Identifiers: chr19:g.18980009C>A (hg19) ; chr19:g.18869200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869200C>A , CM000681.2:g.18869200C>A	GRCh38
NC_000019.9:g.18980009C>A , CM000681.1:g.18980009C>A	GRCh37
NC_000019.8:g.18841009C>A	NCBI36
NG_012070.1:g.31945G>T
NG_033056.1:g.31945G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*785G>T (CERS1) MANE Select	ENSP00000485308.1:n.*785G>T
ENST00000247005.8:c.516G>T (GDF1) MANE Select	ENSP00000247005.5:p.Gln172His
ENST00000247005.7:c.516G>T (GDF1)	ENSP00000247005.5:p.Gln172His
ENST00000623882.3:c.*785G>T (CERS1)	ENSP00000485308.1:n.*785G>T
ENST00000623927.1:c.516G>T (CERS1)	ENSP00000485582.1:p.Gln172His
NM_001492.5:c.516G>T (GDF1)	NP_001483.3:p.Gln172His
NM_021267.4:c.*785G>T (CERS1)	NP_067090.1:n.*785G>T
NM_001492.6:c.516G>T (GDF1) MANE Select	NP_001483.3:p.Gln172His
NM_021267.5:c.*785G>T (CERS1) MANE Select	NP_067090.1:n.*785G>T
NM_001387438.1:c.516G>T (GDF1)	NP_001374367.1:p.Gln172His
NM_001387440.1:c.*1377G>T (CERS1)	NP_001374369.1:n.*1377G>T