Canonical Allele Identifier: CA404863133

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869211G>A , CM000681.2:g.18869211G>A GRCh38
NC_000019.9:g.18980020G>A , CM000681.1:g.18980020G>A GRCh37
NC_000019.8:g.18841020G>A NCBI36
NG_012070.1:g.31934C>T
NG_033056.1:g.31934C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*774C>T (CERS1) MANE Select ENSP00000485308.1:n.*774C>T
ENST00000247005.8:c.505C>T (GDF1) MANE Select ENSP00000247005.5:p.Gln169Ter
ENST00000247005.7:c.505C>T (GDF1) ENSP00000247005.5:p.Gln169Ter
ENST00000623882.3:c.*774C>T (CERS1) ENSP00000485308.1:n.*774C>T
ENST00000623927.1:c.505C>T (CERS1) ENSP00000485582.1:p.Gln169Ter
NM_001492.5:c.505C>T (GDF1) NP_001483.3:p.Gln169Ter
NM_021267.4:c.*774C>T (CERS1) NP_067090.1:n.*774C>T
NM_001492.6:c.505C>T (GDF1) MANE Select NP_001483.3:p.Gln169Ter
NM_021267.5:c.*774C>T (CERS1) MANE Select NP_067090.1:n.*774C>T
NM_001387438.1:c.505C>T (GDF1) NP_001374367.1:p.Gln169Ter
NM_001387440.1:c.*1366C>T (CERS1) NP_001374369.1:n.*1366C>T