Canonical Allele Identifier: CA9318231

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18884119A>G , CM000681.2:g.18884119A>G	GRCh38
NC_000019.9:g.18994928A>G , CM000681.1:g.18994928A>G	GRCh37
NC_000019.8:g.18855928A>G	NCBI36
NG_012070.1:g.17026T>C
NG_033056.1:g.17026T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001492.6:c.-765T>C (GDF1) MANE Select	NP_001483.3:n.-765T>C
NM_021267.5:c.558T>C (CERS1) MANE Select	NP_067090.1:p.Thr186=
ENST00000247005.8:c.-765T>C (GDF1) MANE Select	ENSP00000247005.5:n.-765T>C
ENST00000623882.4:c.558T>C (CERS1) MANE Select	ENSP00000485308.1:p.Thr186=
NM_001290265.1:c.264T>C (CERS1)	NP_001277194.1:p.Thr88=
NM_001290265.2:c.264T>C (CERS1)	NP_001277194.1:p.Thr88=
NM_001387438.1:c.-345T>C (GDF1)	NP_001374367.1:n.-345T>C
NM_001387439.1:c.558T>C (CERS1)	NP_001374368.1:p.Thr186=
NM_001387440.1:c.558T>C (CERS1)	NP_001374369.1:p.Thr186=
NM_001387441.1:c.558T>C (CERS1)	NP_001374370.1:p.Thr186=
NM_001387442.1:c.264T>C (CERS1)	NP_001374371.1:p.Thr88=
NM_001387443.1:c.264T>C (CERS1)	NP_001374372.1:p.Thr88=
NM_001387444.1:c.264T>C (CERS1)	NP_001374373.1:p.Thr88=
NM_001387445.1:c.264T>C (CERS1)	NP_001374374.1:p.Thr88=
NM_001492.5:c.-765T>C (GDF1)	NP_001483.3:n.-765T>C
NM_021267.4:c.558T>C (CERS1)	NP_067090.1:p.Thr186=
NM_198207.2:c.558T>C (CERS1)	NP_937850.1:p.Thr186=
NM_198207.3:c.558T>C (CERS1)	NP_937850.1:p.Thr186=
ENST00000247005.7:c.-765T>C (GDF1)	ENSP00000247005.5:n.-765T>C
ENST00000429504.6:c.558T>C (CERS1)	ENSP00000389044.1:p.Thr186=
ENST00000542296.6:c.264T>C (CERS1)	ENSP00000437648.1:p.Thr88=
ENST00000596048.1:c.115T>C (CERS1)
ENST00000623882.3:c.558T>C (CERS1)	ENSP00000485308.1:p.Thr186=
ENST00000623927.1:c.-765T>C (CERS1)	ENSP00000485582.1:n.-765T>C