Canonical Allele Identifier: CA306233052

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18870598C>T , CM000681.2:g.18870598C>T	GRCh38
NC_000019.9:g.18981407C>T , CM000681.1:g.18981407C>T	GRCh37
NC_000019.8:g.18842407C>T	NCBI36
NG_012070.1:g.30547G>A
NG_033056.1:g.30547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.1032G>A (CERS1) MANE Select	ENSP00000485308.1:p.Leu344=
ENST00000247005.8:c.-291G>A (GDF1) MANE Select	ENSP00000247005.5:n.-291G>A
ENST00000247005.7:c.-291G>A (GDF1)	ENSP00000247005.5:n.-291G>A
ENST00000623882.3:c.1032G>A (CERS1)	ENSP00000485308.1:p.Leu344=
ENST00000623927.1:c.-291G>A (CERS1)	ENSP00000485582.1:n.-291G>A
NM_001492.5:c.-291G>A (GDF1)	NP_001483.3:n.-291G>A
NM_021267.4:c.1032G>A (CERS1)	NP_067090.1:p.Leu344=
NM_001492.6:c.-291G>A (GDF1) MANE Select	NP_001483.3:n.-291G>A
NM_021267.5:c.1032G>A (CERS1) MANE Select	NP_067090.1:p.Leu344=
NM_001387438.1:c.-291G>A (GDF1)	NP_001374367.1:n.-291G>A
NM_001387440.1:c.1032G>A (CERS1)	NP_001374369.1:p.Leu344=