Canonical Allele Identifier: CA404863296

Linked Data

dbSNP Id: rs2055915751

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869289T>C , CM000681.2:g.18869289T>C GRCh38
NC_000019.9:g.18980098T>C , CM000681.1:g.18980098T>C GRCh37
NC_000019.8:g.18841098T>C NCBI36
NG_012070.1:g.31856A>G
NG_033056.1:g.31856A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*696A>G (CERS1) MANE Select ENSP00000485308.1:n.*696A>G
ENST00000247005.8:c.427A>G (GDF1) MANE Select ENSP00000247005.5:p.Ser143Gly
ENST00000247005.7:c.427A>G (GDF1) ENSP00000247005.5:p.Ser143Gly
ENST00000623882.3:c.*696A>G (CERS1) ENSP00000485308.1:n.*696A>G
ENST00000623927.1:c.427A>G (CERS1) ENSP00000485582.1:p.Ser143Gly
NM_001492.5:c.427A>G (GDF1) NP_001483.3:p.Ser143Gly
NM_021267.4:c.*696A>G (CERS1) NP_067090.1:n.*696A>G
NM_001492.6:c.427A>G (GDF1) MANE Select NP_001483.3:p.Ser143Gly
NM_021267.5:c.*696A>G (CERS1) MANE Select NP_067090.1:n.*696A>G
NM_001387438.1:c.427A>G (GDF1) NP_001374367.1:p.Ser143Gly
NM_001387440.1:c.*1288A>G (CERS1) NP_001374369.1:n.*1288A>G