Canonical Allele Identifier: CA340191580

Gene: POMGNT1

Linked Data

• MyVariant Identifiers: chr1:g.46662429C>G (hg19) ; chr1:g.46196757C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46196757C>G , CM000663.2:g.46196757C>G	GRCh38
NC_000001.10:g.46662429C>G , CM000663.1:g.46662429C>G	GRCh37
NC_000001.9:g.46435016C>G	NCBI36
NG_009205.2:g.28549G>C
NG_009205.3:g.28549G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.328G>C	ENSP00000379698.4:p.Val110Leu
ENST00000477114.2:n.500G>C
ENST00000497439.6:n.500G>C
ENST00000684817.1:n.496G>C
ENST00000684898.1:n.500G>C
ENST00000685230.1:c.328G>C	ENSP00000510305.1:p.Val110Leu
ENST00000685275.1:n.485G>C
ENST00000685444.1:c.328G>C	ENSP00000510762.1:p.Val110Leu
ENST00000685704.1:n.500G>C
ENST00000685775.1:n.620G>C
ENST00000685833.1:n.473G>C
ENST00000686252.1:n.749G>C
ENST00000686379.1:c.328G>C	ENSP00000508913.1:p.Val110Leu
ENST00000686724.1:n.500G>C
ENST00000686737.1:c.328G>C	ENSP00000508736.1:p.Val110Leu
ENST00000687112.1:n.500G>C
ENST00000687149.1:c.328G>C	ENSP00000509745.1:p.Val110Leu
ENST00000687197.1:c.328G>C	ENSP00000510749.1:p.Val110Leu
ENST00000687235.1:n.500G>C
ENST00000687613.1:n.496G>C
ENST00000687683.1:c.328G>C	ENSP00000508522.1:p.Val110Leu
ENST00000688032.1:n.500G>C
ENST00000688596.1:n.500G>C
ENST00000688608.1:c.328G>C	ENSP00000508890.1:p.Val110Leu
ENST00000688919.1:n.481G>C
ENST00000689031.1:n.500G>C
ENST00000689717.1:n.500G>C
ENST00000689756.1:c.235+213G>C	ENSP00000509023.1:n.235+213G>C
ENST00000690377.1:n.500G>C
ENST00000690678.1:c.328G>C	ENSP00000508703.1:p.Val110Leu
ENST00000691209.1:c.328G>C	ENSP00000510112.1:p.Val110Leu
ENST00000691243.1:c.328G>C	ENSP00000510654.1:p.Val110Leu
ENST00000692169.1:n.500G>C
ENST00000692202.1:n.496G>C
ENST00000692322.1:c.*180G>C	ENSP00000509017.1:n.*180G>C
ENST00000692369.1:c.328G>C	ENSP00000508453.1:p.Val110Leu
ENST00000692599.1:n.500G>C
ENST00000692635.1:c.328G>C	ENSP00000508425.1:p.Val110Leu
ENST00000693168.1:n.500G>C
ENST00000693218.1:c.328G>C	ENSP00000510577.1:p.Val110Leu
ENST00000693223.1:n.972G>C
ENST00000693365.1:n.574G>C
ENST00000371984.8:c.328G>C MANE Select	ENSP00000361052.3:p.Val110Leu
ENST00000371984.7:c.328G>C	ENSP00000361052.3:p.Val110Leu
ENST00000371992.1:c.328G>C	ENSP00000361060.1:p.Val110Leu
ENST00000396420.7:c.328G>C	ENSP00000379698.3:p.Val110Leu
ENST00000489985.1:n.587+22G>C
ENST00000497439.5:n.452G>C
NM_001243766.1:c.328G>C	NP_001230695.1:p.Val110Leu
NM_001290129.1:c.262G>C	NP_001277058.1:p.Val88Leu
NM_001290130.1:c.-102G>C	NP_001277059.1:n.-102G>C
NM_017739.3:c.328G>C	NP_060209.3:p.Val110Leu
XM_005271010.1:c.328G>C	XP_005271067.1:p.Val110Leu
XM_006710755.1:c.328G>C	XP_006710818.1:p.Val110Leu
XM_006710756.1:c.328G>C	XP_006710819.1:p.Val110Leu
XM_011541759.1:c.262G>C	XP_011540061.1:p.Val88Leu
XM_011541760.1:c.262G>C	XP_011540062.1:p.Val88Leu
XR_946706.1:n.487G>C
XM_011541760.3:c.262G>C	XP_011540062.1:p.Val88Leu
XM_017001690.1:c.328G>C	XP_016857179.1:p.Val110Leu
NM_001243766.2:c.328G>C	NP_001230695.2:p.Val110Leu
NM_001290129.2:c.262G>C	NP_001277058.2:p.Val88Leu
NM_001290130.2:c.-102G>C	NP_001277059.2:n.-102G>C
NM_017739.4:c.328G>C MANE Select	NP_060209.4:p.Val110Leu