Canonical Allele Identifier: CA212908894
Gene: CWF19L1 HGNC NCBI

Linked Data

dbSNP Id: rs911076443

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100245819G>A , CM000672.2:g.100245819G>A GRCh38
NC_000010.10:g.102005576G>A , CM000672.1:g.102005576G>A GRCh37
NC_000010.9:g.101995566G>A NCBI36
NG_041811.1:g.26863C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354105.10:c.944C>T MANE Select ENSP00000326411.6:p.Pro315Leu
ENST00000354105.8:c.944C>T ENSP00000326411.6:p.Pro315Leu
ENST00000370379.1:c.209C>T ENSP00000359405.1:p.Pro70Leu
ENST00000466408.1:n.298C>T
ENST00000466955.5:n.485C>T
ENST00000468709.5:n.800C>T
ENST00000478047.1:n.1200-7588C>T
ENST00000482452.5:n.632C>T
ENST00000496796.5:n.708C>T
NM_001303404.1:c.944C>T NP_001290333.1:p.Pro315Leu
NM_001303405.1:c.533C>T NP_001290334.1:p.Pro178Leu
NM_001303406.1:c.533C>T NP_001290335.1:p.Pro178Leu
NM_001303407.1:c.209C>T NP_001290336.1:p.Pro70Leu
NM_018294.5:c.944C>T NP_060764.3:p.Pro315Leu
NM_018294.6:c.944C>T MANE Select NP_060764.3:p.Pro315Leu
NM_001303404.2:c.944C>T NP_001290333.1:p.Pro315Leu
NM_001303405.2:c.533C>T NP_001290334.1:p.Pro178Leu
NM_001303406.2:c.533C>T NP_001290335.1:p.Pro178Leu
NM_001303407.2:c.209C>T NP_001290336.1:p.Pro70Leu