Canonical Allele Identifier: CA340191582

Gene: POMGNT1

Linked Data

• MyVariant Identifiers: chr1:g.46662430T>G (hg19) ; chr1:g.46196758T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46196758T>G , CM000663.2:g.46196758T>G	GRCh38
NC_000001.10:g.46662430T>G , CM000663.1:g.46662430T>G	GRCh37
NC_000001.9:g.46435017T>G	NCBI36
NG_009205.2:g.28548A>C
NG_009205.3:g.28548A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.327A>C	ENSP00000379698.4:p.Lys109Asn
ENST00000477114.2:n.499A>C
ENST00000497439.6:n.499A>C
ENST00000684817.1:n.495A>C
ENST00000684898.1:n.499A>C
ENST00000685230.1:c.327A>C	ENSP00000510305.1:p.Lys109Asn
ENST00000685275.1:n.484A>C
ENST00000685444.1:c.327A>C	ENSP00000510762.1:p.Lys109Asn
ENST00000685704.1:n.499A>C
ENST00000685775.1:n.619A>C
ENST00000685833.1:n.472A>C
ENST00000686252.1:n.748A>C
ENST00000686379.1:c.327A>C	ENSP00000508913.1:p.Lys109Asn
ENST00000686724.1:n.499A>C
ENST00000686737.1:c.327A>C	ENSP00000508736.1:p.Lys109Asn
ENST00000687112.1:n.499A>C
ENST00000687149.1:c.327A>C	ENSP00000509745.1:p.Lys109Asn
ENST00000687197.1:c.327A>C	ENSP00000510749.1:p.Lys109Asn
ENST00000687235.1:n.499A>C
ENST00000687613.1:n.495A>C
ENST00000687683.1:c.327A>C	ENSP00000508522.1:p.Lys109Asn
ENST00000688032.1:n.499A>C
ENST00000688596.1:n.499A>C
ENST00000688608.1:c.327A>C	ENSP00000508890.1:p.Lys109Asn
ENST00000688919.1:n.480A>C
ENST00000689031.1:n.499A>C
ENST00000689717.1:n.499A>C
ENST00000689756.1:c.235+212A>C	ENSP00000509023.1:n.235+212A>C
ENST00000690377.1:n.499A>C
ENST00000690678.1:c.327A>C	ENSP00000508703.1:p.Lys109Asn
ENST00000691209.1:c.327A>C	ENSP00000510112.1:p.Lys109Asn
ENST00000691243.1:c.327A>C	ENSP00000510654.1:p.Lys109Asn
ENST00000692169.1:n.499A>C
ENST00000692202.1:n.495A>C
ENST00000692322.1:c.*179A>C	ENSP00000509017.1:n.*179A>C
ENST00000692369.1:c.327A>C	ENSP00000508453.1:p.Lys109Asn
ENST00000692599.1:n.499A>C
ENST00000692635.1:c.327A>C	ENSP00000508425.1:p.Lys109Asn
ENST00000693168.1:n.499A>C
ENST00000693218.1:c.327A>C	ENSP00000510577.1:p.Lys109Asn
ENST00000693223.1:n.971A>C
ENST00000693365.1:n.573A>C
ENST00000371984.8:c.327A>C MANE Select	ENSP00000361052.3:p.Lys109Asn
ENST00000371984.7:c.327A>C	ENSP00000361052.3:p.Lys109Asn
ENST00000371992.1:c.327A>C	ENSP00000361060.1:p.Lys109Asn
ENST00000396420.7:c.327A>C	ENSP00000379698.3:p.Lys109Asn
ENST00000489985.1:n.587+21A>C
ENST00000497439.5:n.451A>C
NM_001243766.1:c.327A>C	NP_001230695.1:p.Lys109Asn
NM_001290129.1:c.261A>C	NP_001277058.1:p.Lys87Asn
NM_001290130.1:c.-103A>C	NP_001277059.1:n.-103A>C
NM_017739.3:c.327A>C	NP_060209.3:p.Lys109Asn
XM_005271010.1:c.327A>C	XP_005271067.1:p.Lys109Asn
XM_006710755.1:c.327A>C	XP_006710818.1:p.Lys109Asn
XM_006710756.1:c.327A>C	XP_006710819.1:p.Lys109Asn
XM_011541759.1:c.261A>C	XP_011540061.1:p.Lys87Asn
XM_011541760.1:c.261A>C	XP_011540062.1:p.Lys87Asn
XR_946706.1:n.486A>C
XM_011541760.3:c.261A>C	XP_011540062.1:p.Lys87Asn
XM_017001690.1:c.327A>C	XP_016857179.1:p.Lys109Asn
NM_001243766.2:c.327A>C	NP_001230695.2:p.Lys109Asn
NM_001290129.2:c.261A>C	NP_001277058.2:p.Lys87Asn
NM_001290130.2:c.-103A>C	NP_001277059.2:n.-103A>C
NM_017739.4:c.327A>C MANE Select	NP_060209.4:p.Lys109Asn