Canonical Allele Identifier: CA9318225

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18884106C>T , CM000681.2:g.18884106C>T	GRCh38
NC_000019.9:g.18994915C>T , CM000681.1:g.18994915C>T	GRCh37
NC_000019.8:g.18855915C>T	NCBI36
NG_012070.1:g.17039G>A
NG_033056.1:g.17039G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001492.6:c.-752G>A (GDF1) MANE Select	NP_001483.3:n.-752G>A
NM_021267.5:c.571G>A (CERS1) MANE Select	NP_067090.1:p.Val191Ile
ENST00000247005.8:c.-752G>A (GDF1) MANE Select	ENSP00000247005.5:n.-752G>A
ENST00000623882.4:c.571G>A (CERS1) MANE Select	ENSP00000485308.1:p.Val191Ile
NM_001290265.1:c.277G>A (CERS1)	NP_001277194.1:p.Val93Ile
NM_001290265.2:c.277G>A (CERS1)	NP_001277194.1:p.Val93Ile
NM_001387438.1:c.-332G>A (GDF1)	NP_001374367.1:n.-332G>A
NM_001387439.1:c.571G>A (CERS1)	NP_001374368.1:p.Val191Ile
NM_001387440.1:c.571G>A (CERS1)	NP_001374369.1:p.Val191Ile
NM_001387441.1:c.571G>A (CERS1)	NP_001374370.1:p.Val191Ile
NM_001387442.1:c.277G>A (CERS1)	NP_001374371.1:p.Val93Ile
NM_001387443.1:c.277G>A (CERS1)	NP_001374372.1:p.Val93Ile
NM_001387444.1:c.277G>A (CERS1)	NP_001374373.1:p.Val93Ile
NM_001387445.1:c.277G>A (CERS1)	NP_001374374.1:p.Val93Ile
NM_001492.5:c.-752G>A (GDF1)	NP_001483.3:n.-752G>A
NM_021267.4:c.571G>A (CERS1)	NP_067090.1:p.Val191Ile
NM_198207.2:c.571G>A (CERS1)	NP_937850.1:p.Val191Ile
NM_198207.3:c.571G>A (CERS1)	NP_937850.1:p.Val191Ile
ENST00000247005.7:c.-752G>A (GDF1)	ENSP00000247005.5:n.-752G>A
ENST00000429504.6:c.571G>A (CERS1)	ENSP00000389044.1:p.Val191Ile
ENST00000542296.6:c.277G>A (CERS1)	ENSP00000437648.1:p.Val93Ile
ENST00000596048.1:c.128G>A (CERS1)
ENST00000623882.3:c.571G>A (CERS1)	ENSP00000485308.1:p.Val191Ile
ENST00000623927.1:c.-752G>A (CERS1)	ENSP00000485582.1:n.-752G>A