Canonical Allele Identifier: CA2326567769

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869221C= , CM000681.2:g.18869221C= GRCh38
NC_000019.9:g.18980030C= , CM000681.1:g.18980030C= GRCh37
NC_000019.8:g.18841030C= NCBI36
NG_012070.1:g.31924G=
NG_033056.1:g.31924G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*764G= (CERS1) MANE Select ENSP00000485308.1:n.*764G=
ENST00000247005.8:c.495G= (GDF1) MANE Select ENSP00000247005.5:p.Leu165=
ENST00000247005.7:c.495G= (GDF1) ENSP00000247005.5:p.Leu165=
ENST00000623882.3:c.*764G= (CERS1) ENSP00000485308.1:n.*764G=
ENST00000623927.1:c.495G= (CERS1) ENSP00000485582.1:p.Leu165=
NM_001492.5:c.495G= (GDF1) NP_001483.3:p.Leu165=
NM_021267.4:c.*764G= (CERS1) NP_067090.1:n.*764G=
NM_001492.6:c.495G= (GDF1) MANE Select NP_001483.3:p.Leu165=
NM_021267.5:c.*764G= (CERS1) MANE Select NP_067090.1:n.*764G=
NM_001387438.1:c.495G= (GDF1) NP_001374367.1:p.Leu165=
NM_001387440.1:c.*1356G= (CERS1) NP_001374369.1:n.*1356G=