Canonical Allele Identifier: CA9317946

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 3013684
• ClinVar RCV Id: RCV003873259
• dbSNP Id: rs778213666
• ExAC: 19:18980171 G / A
• gnomAD v2: 19-18980171-G-A
• gnomAD v3: 19-18869362-G-A
• gnomAD v4: 19-18869362-G-A
• MyVariant Identifiers: chr19:g.18980171G>A (hg19) ; chr19:g.18869362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869362G>A , CM000681.2:g.18869362G>A	GRCh38
NC_000019.9:g.18980171G>A , CM000681.1:g.18980171G>A	GRCh37
NC_000019.8:g.18841171G>A	NCBI36
NG_012070.1:g.31783C>T
NG_033056.1:g.31783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*623C>T (CERS1) MANE Select	ENSP00000485308.1:n.*623C>T
ENST00000247005.8:c.354C>T (GDF1) MANE Select	ENSP00000247005.5:p.Ala118=
ENST00000247005.7:c.354C>T (GDF1)	ENSP00000247005.5:p.Ala118=
ENST00000623882.3:c.*623C>T (CERS1)	ENSP00000485308.1:n.*623C>T
ENST00000623927.1:c.354C>T (CERS1)	ENSP00000485582.1:p.Ala118=
NM_001492.5:c.354C>T (GDF1)	NP_001483.3:p.Ala118=
NM_021267.4:c.*623C>T (CERS1)	NP_067090.1:n.*623C>T
NM_001492.6:c.354C>T (GDF1) MANE Select	NP_001483.3:p.Ala118=
NM_021267.5:c.*623C>T (CERS1) MANE Select	NP_067090.1:n.*623C>T
NM_001387438.1:c.354C>T (GDF1)	NP_001374367.1:p.Ala118=
NM_001387440.1:c.*1215C>T (CERS1)	NP_001374369.1:n.*1215C>T