Canonical Allele Identifier: CA247596

Linked Data

ClinVar Variation Id: 6749
dbSNP Id: rs121434424

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869231C>T , CM000681.2:g.18869231C>T GRCh38
NC_000019.9:g.18980040C>T , CM000681.1:g.18980040C>T GRCh37
NC_000019.8:g.18841040C>T NCBI36
NG_012070.1:g.31914G>A
NG_033056.1:g.31914G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*754G>A (CERS1) MANE Select ENSP00000485308.1:n.*754G>A
ENST00000247005.8:c.485G>A (GDF1) MANE Select ENSP00000247005.5:p.Gly162Asp
ENST00000247005.7:c.485G>A (GDF1) ENSP00000247005.5:p.Gly162Asp
ENST00000623882.3:c.*754G>A (CERS1) ENSP00000485308.1:n.*754G>A
ENST00000623927.1:c.485G>A (CERS1) ENSP00000485582.1:p.Gly162Asp
NM_001492.5:c.485G>A (GDF1) NP_001483.3:p.Gly162Asp
NM_021267.4:c.*754G>A (CERS1) NP_067090.1:n.*754G>A
NM_001492.6:c.485G>A (GDF1) MANE Select NP_001483.3:p.Gly162Asp
NM_021267.5:c.*754G>A (CERS1) MANE Select NP_067090.1:n.*754G>A
NM_001387438.1:c.485G>A (GDF1) NP_001374367.1:p.Gly162Asp
NM_001387440.1:c.*1346G>A (CERS1) NP_001374369.1:n.*1346G>A