Canonical Allele Identifier: CA378157707

Gene: CWF19L1

Linked Data

• MyVariant Identifiers: chr10:g.102013181T>A (hg19) ; chr10:g.100253424T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100253424T>A , CM000672.2:g.100253424T>A	GRCh38
NC_000010.10:g.102013181T>A , CM000672.1:g.102013181T>A	GRCh37
NC_000010.9:g.102003171T>A	NCBI36
NG_041811.1:g.19258A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.620A>T MANE Select	ENSP00000326411.6:p.Tyr207Phe
ENST00000354105.8:c.620A>T	ENSP00000326411.6:p.Tyr207Phe
ENST00000466955.5:n.177A>T
ENST00000468709.5:n.476A>T
ENST00000473842.1:n.592A>T
ENST00000478047.1:n.1196A>T
ENST00000482452.5:n.308A>T
ENST00000496796.5:n.384A>T
NM_001303404.1:c.620A>T	NP_001290333.1:p.Tyr207Phe
NM_001303405.1:c.209A>T	NP_001290334.1:p.Tyr70Phe
NM_001303406.1:c.209A>T	NP_001290335.1:p.Tyr70Phe
NM_001303407.1:c.-116A>T	NP_001290336.1:n.-116A>T
NM_018294.5:c.620A>T	NP_060764.3:p.Tyr207Phe
NM_018294.6:c.620A>T MANE Select	NP_060764.3:p.Tyr207Phe
NM_001303404.2:c.620A>T	NP_001290333.1:p.Tyr207Phe
NM_001303405.2:c.209A>T	NP_001290334.1:p.Tyr70Phe
NM_001303406.2:c.209A>T	NP_001290335.1:p.Tyr70Phe
NM_001303407.2:c.-116A>T	NP_001290336.1:n.-116A>T