Canonical Allele Identifier: CA522811924

Gene: POMGNT1

Linked Data

• ClinVar Variation Id: 1954782
• ClinVar RCV Id: RCV002715122
• dbSNP Id: rs1391226532
• gnomAD v2: 1-46662538-G-T
• gnomAD v4: 1-46196866-G-T
• MyVariant Identifiers: chr1:g.46662538G>T (hg19) ; chr1:g.46196866G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46196866G>T , CM000663.2:g.46196866G>T	GRCh38
NC_000001.10:g.46662538G>T , CM000663.1:g.46662538G>T	GRCh37
NC_000001.9:g.46435125G>T	NCBI36
NG_009205.2:g.28440C>A
NG_009205.3:g.28440C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.236-17C>A	ENSP00000379698.4:n.236-17C>A
ENST00000477114.2:n.408-17C>A
ENST00000497439.6:n.408-17C>A
ENST00000684817.1:n.404-17C>A
ENST00000684898.1:n.408-17C>A
ENST00000685230.1:c.236-17C>A	ENSP00000510305.1:n.236-17C>A
ENST00000685275.1:n.393-17C>A
ENST00000685444.1:c.236-17C>A	ENSP00000510762.1:n.236-17C>A
ENST00000685704.1:n.408-17C>A
ENST00000685775.1:n.511C>A
ENST00000685833.1:n.381-17C>A
ENST00000686252.1:n.640C>A
ENST00000686379.1:c.236-17C>A	ENSP00000508913.1:n.236-17C>A
ENST00000686724.1:n.408-17C>A
ENST00000686737.1:c.236-17C>A	ENSP00000508736.1:n.236-17C>A
ENST00000687112.1:n.408-17C>A
ENST00000687149.1:c.236-17C>A	ENSP00000509745.1:n.236-17C>A
ENST00000687197.1:c.236-17C>A	ENSP00000510749.1:n.236-17C>A
ENST00000687235.1:n.408-17C>A
ENST00000687613.1:n.404-17C>A
ENST00000687683.1:c.236-17C>A	ENSP00000508522.1:n.236-17C>A
ENST00000688032.1:n.408-17C>A
ENST00000688596.1:n.408-17C>A
ENST00000688608.1:c.236-17C>A	ENSP00000508890.1:n.236-17C>A
ENST00000688919.1:n.389-17C>A
ENST00000689031.1:n.408-17C>A
ENST00000689717.1:n.408-17C>A
ENST00000689756.1:c.235+104C>A	ENSP00000509023.1:n.235+104C>A
ENST00000690377.1:n.408-17C>A
ENST00000690678.1:c.236-17C>A	ENSP00000508703.1:n.236-17C>A
ENST00000691209.1:c.236-17C>A	ENSP00000510112.1:n.236-17C>A
ENST00000691243.1:c.236-17C>A	ENSP00000510654.1:n.236-17C>A
ENST00000692169.1:n.408-17C>A
ENST00000692202.1:n.404-17C>A
ENST00000692322.1:c.*88-17C>A	ENSP00000509017.1:n.*88-17C>A
ENST00000692369.1:c.236-17C>A	ENSP00000508453.1:n.236-17C>A
ENST00000692599.1:n.408-17C>A
ENST00000692635.1:c.236-17C>A	ENSP00000508425.1:n.236-17C>A
ENST00000693168.1:n.408-17C>A
ENST00000693218.1:c.236-17C>A	ENSP00000510577.1:n.236-17C>A
ENST00000693223.1:n.880-17C>A
ENST00000693365.1:n.465C>A
ENST00000371984.8:c.236-17C>A MANE Select	ENSP00000361052.3:n.236-17C>A
ENST00000371984.7:c.236-17C>A	ENSP00000361052.3:n.236-17C>A
ENST00000371992.1:c.236-17C>A	ENSP00000361060.1:n.236-17C>A
ENST00000396420.7:c.236-17C>A	ENSP00000379698.3:n.236-17C>A
ENST00000489985.1:n.517-17C>A
ENST00000497439.5:n.360-17C>A
NM_001243766.1:c.236-17C>A	NP_001230695.1:n.236-17C>A
NM_001290129.1:c.170-17C>A	NP_001277058.1:n.170-17C>A
NM_001290130.1:c.-194-17C>A	NP_001277059.1:n.-194-17C>A
NM_017739.3:c.236-17C>A	NP_060209.3:n.236-17C>A
XM_005271010.1:c.236-17C>A	XP_005271067.1:n.236-17C>A
XM_006710755.1:c.236-17C>A	XP_006710818.1:n.236-17C>A
XM_006710756.1:c.236-17C>A	XP_006710819.1:n.236-17C>A
XM_011541759.1:c.170-17C>A	XP_011540061.1:n.170-17C>A
XM_011541760.1:c.170-17C>A	XP_011540062.1:n.170-17C>A
XR_946706.1:n.395-17C>A
XM_011541760.3:c.170-17C>A	XP_011540062.1:n.170-17C>A
XM_017001690.1:c.236-17C>A	XP_016857179.1:n.236-17C>A
NM_001243766.2:c.236-17C>A	NP_001230695.2:n.236-17C>A
NM_001290129.2:c.170-17C>A	NP_001277058.2:n.170-17C>A
NM_001290130.2:c.-194-17C>A	NP_001277059.2:n.-194-17C>A
NM_017739.4:c.236-17C>A MANE Select	NP_060209.4:n.236-17C>A