Canonical Allele Identifier: CA378161289

Gene: CWF19L1

Linked Data

• MyVariant Identifiers: chr10:g.101997798C>A (hg19) ; chr10:g.100238041C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100238041C>A , CM000672.2:g.100238041C>A	GRCh38
NC_000010.10:g.101997798C>A , CM000672.1:g.101997798C>A	GRCh37
NC_000010.9:g.101987788C>A	NCBI36
NG_041811.1:g.34641G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.1235G>T MANE Select	ENSP00000326411.6:p.Ser412Ile
ENST00000354105.8:c.1235G>T	ENSP00000326411.6:p.Ser412Ile
ENST00000370379.1:c.500G>T	ENSP00000359405.1:p.Ser167Ile
ENST00000468709.5:n.1091G>T
ENST00000478047.1:n.1390G>T
ENST00000482452.5:n.918G>T
NM_001303404.1:c.1235G>T	NP_001290333.1:p.Ser412Ile
NM_001303405.1:c.824G>T	NP_001290334.1:p.Ser275Ile
NM_001303406.1:c.824G>T	NP_001290335.1:p.Ser275Ile
NM_001303407.1:c.500G>T	NP_001290336.1:p.Ser167Ile
NM_018294.5:c.1235G>T	NP_060764.3:p.Ser412Ile
NM_018294.6:c.1235G>T MANE Select	NP_060764.3:p.Ser412Ile
NM_001303404.2:c.1235G>T	NP_001290333.1:p.Ser412Ile
NM_001303405.2:c.824G>T	NP_001290334.1:p.Ser275Ile
NM_001303406.2:c.824G>T	NP_001290335.1:p.Ser275Ile
NM_001303407.2:c.500G>T	NP_001290336.1:p.Ser167Ile