Canonical Allele Identifier: CA506118582

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs1232378665
• gnomAD v4: 19-18869170-C-T
• MyVariant Identifiers: chr19:g.18979979C>T (hg19) ; chr19:g.18869170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869170C>T , CM000681.2:g.18869170C>T	GRCh38
NC_000019.9:g.18979979C>T , CM000681.1:g.18979979C>T	GRCh37
NC_000019.8:g.18840979C>T	NCBI36
NG_012070.1:g.31975G>A
NG_033056.1:g.31975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*815G>A (CERS1) MANE Select	ENSP00000485308.1:n.*815G>A
ENST00000247005.8:c.546G>A (GDF1) MANE Select	ENSP00000247005.5:p.Leu182=
ENST00000247005.7:c.546G>A (GDF1)	ENSP00000247005.5:p.Leu182=
ENST00000623882.3:c.*815G>A (CERS1)	ENSP00000485308.1:n.*815G>A
ENST00000623927.1:c.546G>A (CERS1)	ENSP00000485582.1:p.Leu182=
NM_001492.5:c.546G>A (GDF1)	NP_001483.3:p.Leu182=
NM_021267.4:c.*815G>A (CERS1)	NP_067090.1:n.*815G>A
NM_001492.6:c.546G>A (GDF1) MANE Select	NP_001483.3:p.Leu182=
NM_021267.5:c.*815G>A (CERS1) MANE Select	NP_067090.1:n.*815G>A
NM_001387438.1:c.546G>A (GDF1)	NP_001374367.1:p.Leu182=
NM_001387440.1:c.*1407G>A (CERS1)	NP_001374369.1:n.*1407G>A