Canonical Allele Identifier: CA378161856
Gene: CWF19L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100238144A>G , CM000672.2:g.100238144A>G GRCh38
NC_000010.10:g.101997901A>G , CM000672.1:g.101997901A>G GRCh37
NC_000010.9:g.101987891A>G NCBI36
NG_041811.1:g.34538T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354105.10:c.1132T>C MANE Select ENSP00000326411.6:p.Ser378Pro
ENST00000354105.8:c.1132T>C ENSP00000326411.6:p.Ser378Pro
ENST00000370379.1:c.397T>C ENSP00000359405.1:p.Ser133Pro
ENST00000468709.5:n.988T>C
ENST00000478047.1:n.1287T>C
ENST00000482452.5:n.815T>C
NM_001303404.1:c.1132T>C NP_001290333.1:p.Ser378Pro
NM_001303405.1:c.721T>C NP_001290334.1:p.Ser241Pro
NM_001303406.1:c.721T>C NP_001290335.1:p.Ser241Pro
NM_001303407.1:c.397T>C NP_001290336.1:p.Ser133Pro
NM_018294.5:c.1132T>C NP_060764.3:p.Ser378Pro
NM_018294.6:c.1132T>C MANE Select NP_060764.3:p.Ser378Pro
NM_001303404.2:c.1132T>C NP_001290333.1:p.Ser378Pro
NM_001303405.2:c.721T>C NP_001290334.1:p.Ser241Pro
NM_001303406.2:c.721T>C NP_001290335.1:p.Ser241Pro
NM_001303407.2:c.397T>C NP_001290336.1:p.Ser133Pro