Canonical Allele Identifier: CA378163857

Gene: CWF19L1

Linked Data

• MyVariant Identifiers: chr10:g.102005573T>G (hg19) ; chr10:g.100245816T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245816T>G , CM000672.2:g.100245816T>G	GRCh38
NC_000010.10:g.102005573T>G , CM000672.1:g.102005573T>G	GRCh37
NC_000010.9:g.101995563T>G	NCBI36
NG_041811.1:g.26866A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.947A>C MANE Select	ENSP00000326411.6:p.Lys316Thr
ENST00000354105.8:c.947A>C	ENSP00000326411.6:p.Lys316Thr
ENST00000370379.1:c.212A>C	ENSP00000359405.1:p.Lys71Thr
ENST00000466408.1:n.301A>C
ENST00000466955.5:n.488A>C
ENST00000468709.5:n.803A>C
ENST00000478047.1:n.1200-7585A>C
ENST00000482452.5:n.635A>C
ENST00000496796.5:n.711A>C
NM_001303404.1:c.947A>C	NP_001290333.1:p.Lys316Thr
NM_001303405.1:c.536A>C	NP_001290334.1:p.Lys179Thr
NM_001303406.1:c.536A>C	NP_001290335.1:p.Lys179Thr
NM_001303407.1:c.212A>C	NP_001290336.1:p.Lys71Thr
NM_018294.5:c.947A>C	NP_060764.3:p.Lys316Thr
NM_018294.6:c.947A>C MANE Select	NP_060764.3:p.Lys316Thr
NM_001303404.2:c.947A>C	NP_001290333.1:p.Lys316Thr
NM_001303405.2:c.536A>C	NP_001290334.1:p.Lys179Thr
NM_001303406.2:c.536A>C	NP_001290335.1:p.Lys179Thr
NM_001303407.2:c.212A>C	NP_001290336.1:p.Lys71Thr