Canonical Allele Identifier: CA404863002

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18869175-C-G
• MyVariant Identifiers: chr19:g.18979984C>G (hg19) ; chr19:g.18869175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869175C>G , CM000681.2:g.18869175C>G	GRCh38
NC_000019.9:g.18979984C>G , CM000681.1:g.18979984C>G	GRCh37
NC_000019.8:g.18840984C>G	NCBI36
NG_012070.1:g.31970G>C
NG_033056.1:g.31970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*810G>C (CERS1) MANE Select	ENSP00000485308.1:n.*810G>C
ENST00000247005.8:c.541G>C (GDF1) MANE Select	ENSP00000247005.5:p.Val181Leu
ENST00000247005.7:c.541G>C (GDF1)	ENSP00000247005.5:p.Val181Leu
ENST00000623882.3:c.*810G>C (CERS1)	ENSP00000485308.1:n.*810G>C
ENST00000623927.1:c.541G>C (CERS1)	ENSP00000485582.1:p.Val181Leu
NM_001492.5:c.541G>C (GDF1)	NP_001483.3:p.Val181Leu
NM_021267.4:c.*810G>C (CERS1)	NP_067090.1:n.*810G>C
NM_001492.6:c.541G>C (GDF1) MANE Select	NP_001483.3:p.Val181Leu
NM_021267.5:c.*810G>C (CERS1) MANE Select	NP_067090.1:n.*810G>C
NM_001387438.1:c.541G>C (GDF1)	NP_001374367.1:p.Val181Leu
NM_001387440.1:c.*1402G>C (CERS1)	NP_001374369.1:n.*1402G>C