Canonical Allele Identifier: CA378161817

Gene: CWF19L1

Linked Data

• MyVariant Identifiers: chr10:g.101997894T>G (hg19) ; chr10:g.100238137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100238137T>G , CM000672.2:g.100238137T>G	GRCh38
NC_000010.10:g.101997894T>G , CM000672.1:g.101997894T>G	GRCh37
NC_000010.9:g.101987884T>G	NCBI36
NG_041811.1:g.34545A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.1139A>C MANE Select	ENSP00000326411.6:p.Glu380Ala
ENST00000354105.8:c.1139A>C	ENSP00000326411.6:p.Glu380Ala
ENST00000370379.1:c.404A>C	ENSP00000359405.1:p.Glu135Ala
ENST00000468709.5:n.995A>C
ENST00000478047.1:n.1294A>C
ENST00000482452.5:n.822A>C
NM_001303404.1:c.1139A>C	NP_001290333.1:p.Glu380Ala
NM_001303405.1:c.728A>C	NP_001290334.1:p.Glu243Ala
NM_001303406.1:c.728A>C	NP_001290335.1:p.Glu243Ala
NM_001303407.1:c.404A>C	NP_001290336.1:p.Glu135Ala
NM_018294.5:c.1139A>C	NP_060764.3:p.Glu380Ala
NM_018294.6:c.1139A>C MANE Select	NP_060764.3:p.Glu380Ala
NM_001303404.2:c.1139A>C	NP_001290333.1:p.Glu380Ala
NM_001303405.2:c.728A>C	NP_001290334.1:p.Glu243Ala
NM_001303406.2:c.728A>C	NP_001290335.1:p.Glu243Ala
NM_001303407.2:c.404A>C	NP_001290336.1:p.Glu135Ala