Canonical Allele Identifier: CA291051

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18895839A>G , CM000681.2:g.18895839A>G	GRCh38
NC_000019.9:g.19006648A>G , CM000681.1:g.19006648A>G	GRCh37
NC_000019.8:g.18867648A>G	NCBI36
NG_012070.1:g.5306T>C
NG_033056.1:g.5306T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001492.6:c.-1089T>C (GDF1) MANE Select	NP_001483.3:n.-1089T>C
NM_021267.5:c.234T>C (CERS1) MANE Select	NP_067090.1:p.Thr78=
ENST00000247005.8:c.-1089T>C (GDF1) MANE Select	ENSP00000247005.5:n.-1089T>C
ENST00000623882.4:c.234T>C (CERS1) MANE Select	ENSP00000485308.1:p.Thr78=
NM_001290265.1:c.-46+722T>C (CERS1)	NP_001277194.1:n.-46+722T>C
NM_001290265.2:c.-46+722T>C (CERS1)	NP_001277194.1:n.-46+722T>C
NM_001387438.1:c.-669T>C (GDF1)	NP_001374367.1:n.-669T>C
NM_001387439.1:c.234T>C (CERS1)	NP_001374368.1:p.Thr78=
NM_001387440.1:c.234T>C (CERS1)	NP_001374369.1:p.Thr78=
NM_001387441.1:c.234T>C (CERS1)	NP_001374370.1:p.Thr78=
NM_001387442.1:c.-46+722T>C (CERS1)	NP_001374371.1:n.-46+722T>C
NM_001387443.1:c.-46+887T>C (CERS1)	NP_001374372.1:n.-46+887T>C
NM_001387444.1:c.-295T>C (CERS1)	NP_001374373.1:n.-295T>C
NM_001387445.1:c.-242T>C (CERS1)	NP_001374374.1:n.-242T>C
NM_001492.5:c.-1089T>C (GDF1)	NP_001483.3:n.-1089T>C
NM_021267.4:c.234T>C (CERS1)	NP_067090.1:p.Thr78=
NM_198207.2:c.234T>C (CERS1)	NP_937850.1:p.Thr78=
NM_198207.3:c.234T>C (CERS1)	NP_937850.1:p.Thr78=
ENST00000247005.7:c.-1089T>C (GDF1)	ENSP00000247005.5:n.-1089T>C
ENST00000429504.6:c.234T>C (CERS1)	ENSP00000389044.1:p.Thr78=
ENST00000542296.6:c.-46+722T>C (CERS1)	ENSP00000437648.1:n.-46+722T>C
ENST00000623882.3:c.234T>C (CERS1)	ENSP00000485308.1:p.Thr78=
ENST00000623927.1:c.-1089T>C (CERS1)	ENSP00000485582.1:n.-1089T>C