Canonical Allele Identifier: CA16603663
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384626
ClinVar RCV Id: RCV000428665
dbSNP Id: rs1057522013
gnomAD v4: 1-46196771-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46196771G>C , CM000663.2:g.46196771G>C GRCh38
NC_000001.10:g.46662443G>C , CM000663.1:g.46662443G>C GRCh37
NC_000001.9:g.46435030G>C NCBI36
NG_009205.2:g.28535C>G
NG_009205.3:g.28535C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396420.8:c.314C>G ENSP00000379698.4:p.Ser105Ter
ENST00000477114.2:n.486C>G
ENST00000497439.6:n.486C>G
ENST00000684817.1:n.482C>G
ENST00000684898.1:n.486C>G
ENST00000685230.1:c.314C>G ENSP00000510305.1:p.Ser105Ter
ENST00000685275.1:n.471C>G
ENST00000685444.1:c.314C>G ENSP00000510762.1:p.Ser105Ter
ENST00000685704.1:n.486C>G
ENST00000685775.1:n.606C>G
ENST00000685833.1:n.459C>G
ENST00000686252.1:n.735C>G
ENST00000686379.1:c.314C>G ENSP00000508913.1:p.Ser105Ter
ENST00000686724.1:n.486C>G
ENST00000686737.1:c.314C>G ENSP00000508736.1:p.Ser105Ter
ENST00000687112.1:n.486C>G
ENST00000687149.1:c.314C>G ENSP00000509745.1:p.Ser105Ter
ENST00000687197.1:c.314C>G ENSP00000510749.1:p.Ser105Ter
ENST00000687235.1:n.486C>G
ENST00000687613.1:n.482C>G
ENST00000687683.1:c.314C>G ENSP00000508522.1:p.Ser105Ter
ENST00000688032.1:n.486C>G
ENST00000688596.1:n.486C>G
ENST00000688608.1:c.314C>G ENSP00000508890.1:p.Ser105Ter
ENST00000688919.1:n.467C>G
ENST00000689031.1:n.486C>G
ENST00000689717.1:n.486C>G
ENST00000689756.1:c.235+199C>G ENSP00000509023.1:n.235+199C>G
ENST00000690377.1:n.486C>G
ENST00000690678.1:c.314C>G ENSP00000508703.1:p.Ser105Ter
ENST00000691209.1:c.314C>G ENSP00000510112.1:p.Ser105Ter
ENST00000691243.1:c.314C>G ENSP00000510654.1:p.Ser105Ter
ENST00000692169.1:n.486C>G
ENST00000692202.1:n.482C>G
ENST00000692322.1:c.*166C>G ENSP00000509017.1:n.*166C>G
ENST00000692369.1:c.314C>G ENSP00000508453.1:p.Ser105Ter
ENST00000692599.1:n.486C>G
ENST00000692635.1:c.314C>G ENSP00000508425.1:p.Ser105Ter
ENST00000693168.1:n.486C>G
ENST00000693218.1:c.314C>G ENSP00000510577.1:p.Ser105Ter
ENST00000693223.1:n.958C>G
ENST00000693365.1:n.560C>G
ENST00000371984.8:c.314C>G MANE Select ENSP00000361052.3:p.Ser105Ter
ENST00000371984.7:c.314C>G ENSP00000361052.3:p.Ser105Ter
ENST00000371992.1:c.314C>G ENSP00000361060.1:p.Ser105Ter
ENST00000396420.7:c.314C>G ENSP00000379698.3:p.Ser105Ter
ENST00000489985.1:n.587+8C>G
ENST00000497439.5:n.438C>G
NM_001243766.1:c.314C>G NP_001230695.1:p.Ser105Ter
NM_001290129.1:c.248C>G NP_001277058.1:p.Ser83Ter
NM_001290130.1:c.-116C>G NP_001277059.1:n.-116C>G
NM_017739.3:c.314C>G NP_060209.3:p.Ser105Ter
XM_005271010.1:c.314C>G XP_005271067.1:p.Ser105Ter
XM_006710755.1:c.314C>G XP_006710818.1:p.Ser105Ter
XM_006710756.1:c.314C>G XP_006710819.1:p.Ser105Ter
XM_011541759.1:c.248C>G XP_011540061.1:p.Ser83Ter
XM_011541760.1:c.248C>G XP_011540062.1:p.Ser83Ter
XR_946706.1:n.473C>G
XM_011541760.3:c.248C>G XP_011540062.1:p.Ser83Ter
XM_017001690.1:c.314C>G XP_016857179.1:p.Ser105Ter
NM_001243766.2:c.314C>G NP_001230695.2:p.Ser105Ter
NM_001290129.2:c.248C>G NP_001277058.2:p.Ser83Ter
NM_001290130.2:c.-116C>G NP_001277059.2:n.-116C>G
NM_017739.4:c.314C>G MANE Select NP_060209.4:p.Ser105Ter