Canonical Allele Identifier: CA306258932

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 542128
• ClinVar RCV Id: RCV000652507 ; RCV004025868
• dbSNP Id: rs1041161328
• gnomAD v2: 19-19006866-G-T
• gnomAD v3: 19-18896057-G-T
• gnomAD v4: 19-18896057-G-T
• MyVariant Identifiers: chr19:g.19006866G>T (hg19) ; chr19:g.18896057G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18896057G>T , CM000681.2:g.18896057G>T	GRCh38
NC_000019.9:g.19006866G>T , CM000681.1:g.19006866G>T	GRCh37
NC_000019.8:g.18867866G>T	NCBI36
NG_012070.1:g.5088C>A
NG_033056.1:g.5088C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.16C>A (CERS1) MANE Select	ENSP00000485308.1:p.Pro6Thr
ENST00000247005.8:c.-1307C>A (GDF1) MANE Select	ENSP00000247005.5:n.-1307C>A
ENST00000247005.7:c.-1307C>A (GDF1)	ENSP00000247005.5:n.-1307C>A
ENST00000429504.6:c.16C>A (CERS1)	ENSP00000389044.1:p.Pro6Thr
ENST00000542296.6:c.-46+504C>A (CERS1)	ENSP00000437648.1:n.-46+504C>A
ENST00000623882.3:c.16C>A (CERS1)	ENSP00000485308.1:p.Pro6Thr
ENST00000623927.1:c.-1307C>A (CERS1)	ENSP00000485582.1:n.-1307C>A
NM_001290265.1:c.-46+504C>A (CERS1)	NP_001277194.1:n.-46+504C>A
NM_001492.5:c.-1307C>A (GDF1)	NP_001483.3:n.-1307C>A
NM_021267.4:c.16C>A (CERS1)	NP_067090.1:p.Pro6Thr
NM_198207.2:c.16C>A (CERS1)	NP_937850.1:p.Pro6Thr
NM_001492.6:c.-1307C>A (GDF1) MANE Select	NP_001483.3:n.-1307C>A
NM_021267.5:c.16C>A (CERS1) MANE Select	NP_067090.1:p.Pro6Thr
NM_198207.3:c.16C>A (CERS1)	NP_937850.1:p.Pro6Thr
NM_001290265.2:c.-46+504C>A (CERS1)	NP_001277194.1:n.-46+504C>A
NM_001387438.1:c.-887C>A (GDF1)	NP_001374367.1:n.-887C>A
NM_001387439.1:c.16C>A (CERS1)	NP_001374368.1:p.Pro6Thr
NM_001387440.1:c.16C>A (CERS1)	NP_001374369.1:p.Pro6Thr
NM_001387441.1:c.16C>A (CERS1)	NP_001374370.1:p.Pro6Thr
NM_001387442.1:c.-46+504C>A (CERS1)	NP_001374371.1:n.-46+504C>A
NM_001387443.1:c.-46+669C>A (CERS1)	NP_001374372.1:n.-46+669C>A
NM_001387444.1:c.-513C>A (CERS1)	NP_001374373.1:n.-513C>A
NM_001387445.1:c.-460C>A (CERS1)	NP_001374374.1:n.-460C>A