Canonical Allele Identifier: CA378163862

Gene: CWF19L1

Linked Data

• MyVariant Identifiers: chr10:g.102005577G>C (hg19) ; chr10:g.100245820G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245820G>C , CM000672.2:g.100245820G>C	GRCh38
NC_000010.10:g.102005577G>C , CM000672.1:g.102005577G>C	GRCh37
NC_000010.9:g.101995567G>C	NCBI36
NG_041811.1:g.26862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.943C>G MANE Select	ENSP00000326411.6:p.Pro315Ala
ENST00000354105.8:c.943C>G	ENSP00000326411.6:p.Pro315Ala
ENST00000370379.1:c.208C>G	ENSP00000359405.1:p.Pro70Ala
ENST00000466408.1:n.297C>G
ENST00000466955.5:n.484C>G
ENST00000468709.5:n.799C>G
ENST00000478047.1:n.1200-7589C>G
ENST00000482452.5:n.631C>G
ENST00000496796.5:n.707C>G
NM_001303404.1:c.943C>G	NP_001290333.1:p.Pro315Ala
NM_001303405.1:c.532C>G	NP_001290334.1:p.Pro178Ala
NM_001303406.1:c.532C>G	NP_001290335.1:p.Pro178Ala
NM_001303407.1:c.208C>G	NP_001290336.1:p.Pro70Ala
NM_018294.5:c.943C>G	NP_060764.3:p.Pro315Ala
NM_018294.6:c.943C>G MANE Select	NP_060764.3:p.Pro315Ala
NM_001303404.2:c.943C>G	NP_001290333.1:p.Pro315Ala
NM_001303405.2:c.532C>G	NP_001290334.1:p.Pro178Ala
NM_001303406.2:c.532C>G	NP_001290335.1:p.Pro178Ala
NM_001303407.2:c.208C>G	NP_001290336.1:p.Pro70Ala