Canonical Allele Identifier: CA404864217

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18870600G>C , CM000681.2:g.18870600G>C	GRCh38
NC_000019.9:g.18981409G>C , CM000681.1:g.18981409G>C	GRCh37
NC_000019.8:g.18842409G>C	NCBI36
NG_012070.1:g.30545C>G
NG_033056.1:g.30545C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.1030C>G (CERS1) MANE Select	ENSP00000485308.1:p.Leu344Val
ENST00000247005.8:c.-293C>G (GDF1) MANE Select	ENSP00000247005.5:n.-293C>G
ENST00000247005.7:c.-293C>G (GDF1)	ENSP00000247005.5:n.-293C>G
ENST00000623882.3:c.1030C>G (CERS1)	ENSP00000485308.1:p.Leu344Val
ENST00000623927.1:c.-293C>G (CERS1)	ENSP00000485582.1:n.-293C>G
NM_001492.5:c.-293C>G (GDF1)	NP_001483.3:n.-293C>G
NM_021267.4:c.1030C>G (CERS1)	NP_067090.1:p.Leu344Val
NM_001492.6:c.-293C>G (GDF1) MANE Select	NP_001483.3:n.-293C>G
NM_021267.5:c.1030C>G (CERS1) MANE Select	NP_067090.1:p.Leu344Val
NM_001387438.1:c.-293C>G (GDF1)	NP_001374367.1:n.-293C>G
NM_001387440.1:c.1030C>G (CERS1)	NP_001374369.1:p.Leu344Val