Canonical Allele Identifier: CA9318152
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18879362G>A , CM000681.2:g.18879362G>A GRCh38
NC_000019.9:g.18990171G>A , CM000681.1:g.18990171G>A GRCh37
NC_000019.8:g.18851171G>A NCBI36
NG_012070.1:g.21783C>T
NG_033056.1:g.21783C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.779C>T (CERS1) MANE Select ENSP00000485308.1:p.Pro260Leu
ENST00000247005.8:c.-544C>T (GDF1) MANE Select ENSP00000247005.5:n.-544C>T
ENST00000247005.7:c.-544C>T (GDF1) ENSP00000247005.5:n.-544C>T
ENST00000429504.6:c.779C>T (CERS1) ENSP00000389044.1:p.Pro260Leu
ENST00000542296.6:c.485C>T (CERS1) ENSP00000437648.1:p.Pro162Leu
ENST00000596048.1:c.336C>T (CERS1)
ENST00000623882.3:c.779C>T (CERS1) ENSP00000485308.1:p.Pro260Leu
ENST00000623927.1:c.-544C>T (CERS1) ENSP00000485582.1:n.-544C>T
NM_001290265.1:c.485C>T (CERS1) NP_001277194.1:p.Pro162Leu
NM_001492.5:c.-544C>T (GDF1) NP_001483.3:n.-544C>T
NM_021267.4:c.779C>T (CERS1) NP_067090.1:p.Pro260Leu
NM_198207.2:c.779C>T (CERS1) NP_937850.1:p.Pro260Leu
NM_001492.6:c.-544C>T (GDF1) MANE Select NP_001483.3:n.-544C>T
NM_021267.5:c.779C>T (CERS1) MANE Select NP_067090.1:p.Pro260Leu
NM_198207.3:c.779C>T (CERS1) NP_937850.1:p.Pro260Leu
NM_001290265.2:c.485C>T (CERS1) NP_001277194.1:p.Pro162Leu
NM_001387438.1:c.-313+4725C>T (GDF1) NP_001374367.1:n.-313+4725C>T
NM_001387439.1:c.779C>T (CERS1) NP_001374368.1:p.Pro260Leu
NM_001387440.1:c.779C>T (CERS1) NP_001374369.1:p.Pro260Leu
NM_001387441.1:c.734C>T (CERS1) NP_001374370.1:p.Pro245Leu
NM_001387442.1:c.485C>T (CERS1) NP_001374371.1:p.Pro162Leu
NM_001387443.1:c.485C>T (CERS1) NP_001374372.1:p.Pro162Leu
NM_001387444.1:c.485C>T (CERS1) NP_001374373.1:p.Pro162Leu
NM_001387445.1:c.485C>T (CERS1) NP_001374374.1:p.Pro162Leu