Canonical Allele Identifier: CA306231758

Linked Data

dbSNP Id: rs978050328

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869193C>A , CM000681.2:g.18869193C>A GRCh38
NC_000019.9:g.18980002C>A , CM000681.1:g.18980002C>A GRCh37
NC_000019.8:g.18841002C>A NCBI36
NG_012070.1:g.31952G>T
NG_033056.1:g.31952G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*792G>T (CERS1) MANE Select ENSP00000485308.1:n.*792G>T
ENST00000247005.8:c.523G>T (GDF1) MANE Select ENSP00000247005.5:p.Gly175Cys
ENST00000247005.7:c.523G>T (GDF1) ENSP00000247005.5:p.Gly175Cys
ENST00000623882.3:c.*792G>T (CERS1) ENSP00000485308.1:n.*792G>T
ENST00000623927.1:c.523G>T (CERS1) ENSP00000485582.1:p.Gly175Cys
NM_001492.5:c.523G>T (GDF1) NP_001483.3:p.Gly175Cys
NM_021267.4:c.*792G>T (CERS1) NP_067090.1:n.*792G>T
NM_001492.6:c.523G>T (GDF1) MANE Select NP_001483.3:p.Gly175Cys
NM_021267.5:c.*792G>T (CERS1) MANE Select NP_067090.1:n.*792G>T
NM_001387438.1:c.523G>T (GDF1) NP_001374367.1:p.Gly175Cys
NM_001387440.1:c.*1384G>T (CERS1) NP_001374369.1:n.*1384G>T