Canonical Allele Identifier: CA340191593

Gene: POMGNT1

Linked Data

• MyVariant Identifiers: chr1:g.46662434C>A (hg19) ; chr1:g.46196762C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46196762C>A , CM000663.2:g.46196762C>A	GRCh38
NC_000001.10:g.46662434C>A , CM000663.1:g.46662434C>A	GRCh37
NC_000001.9:g.46435021C>A	NCBI36
NG_009205.2:g.28544G>T
NG_009205.3:g.28544G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.323G>T	ENSP00000379698.4:p.Ser108Ile
ENST00000477114.2:n.495G>T
ENST00000497439.6:n.495G>T
ENST00000684817.1:n.491G>T
ENST00000684898.1:n.495G>T
ENST00000685230.1:c.323G>T	ENSP00000510305.1:p.Ser108Ile
ENST00000685275.1:n.480G>T
ENST00000685444.1:c.323G>T	ENSP00000510762.1:p.Ser108Ile
ENST00000685704.1:n.495G>T
ENST00000685775.1:n.615G>T
ENST00000685833.1:n.468G>T
ENST00000686252.1:n.744G>T
ENST00000686379.1:c.323G>T	ENSP00000508913.1:p.Ser108Ile
ENST00000686724.1:n.495G>T
ENST00000686737.1:c.323G>T	ENSP00000508736.1:p.Ser108Ile
ENST00000687112.1:n.495G>T
ENST00000687149.1:c.323G>T	ENSP00000509745.1:p.Ser108Ile
ENST00000687197.1:c.323G>T	ENSP00000510749.1:p.Ser108Ile
ENST00000687235.1:n.495G>T
ENST00000687613.1:n.491G>T
ENST00000687683.1:c.323G>T	ENSP00000508522.1:p.Ser108Ile
ENST00000688032.1:n.495G>T
ENST00000688596.1:n.495G>T
ENST00000688608.1:c.323G>T	ENSP00000508890.1:p.Ser108Ile
ENST00000688919.1:n.476G>T
ENST00000689031.1:n.495G>T
ENST00000689717.1:n.495G>T
ENST00000689756.1:c.235+208G>T	ENSP00000509023.1:n.235+208G>T
ENST00000690377.1:n.495G>T
ENST00000690678.1:c.323G>T	ENSP00000508703.1:p.Ser108Ile
ENST00000691209.1:c.323G>T	ENSP00000510112.1:p.Ser108Ile
ENST00000691243.1:c.323G>T	ENSP00000510654.1:p.Ser108Ile
ENST00000692169.1:n.495G>T
ENST00000692202.1:n.491G>T
ENST00000692322.1:c.*175G>T	ENSP00000509017.1:n.*175G>T
ENST00000692369.1:c.323G>T	ENSP00000508453.1:p.Ser108Ile
ENST00000692599.1:n.495G>T
ENST00000692635.1:c.323G>T	ENSP00000508425.1:p.Ser108Ile
ENST00000693168.1:n.495G>T
ENST00000693218.1:c.323G>T	ENSP00000510577.1:p.Ser108Ile
ENST00000693223.1:n.967G>T
ENST00000693365.1:n.569G>T
ENST00000371984.8:c.323G>T MANE Select	ENSP00000361052.3:p.Ser108Ile
ENST00000371984.7:c.323G>T	ENSP00000361052.3:p.Ser108Ile
ENST00000371992.1:c.323G>T	ENSP00000361060.1:p.Ser108Ile
ENST00000396420.7:c.323G>T	ENSP00000379698.3:p.Ser108Ile
ENST00000489985.1:n.587+17G>T
ENST00000497439.5:n.447G>T
NM_001243766.1:c.323G>T	NP_001230695.1:p.Ser108Ile
NM_001290129.1:c.257G>T	NP_001277058.1:p.Ser86Ile
NM_001290130.1:c.-107G>T	NP_001277059.1:n.-107G>T
NM_017739.3:c.323G>T	NP_060209.3:p.Ser108Ile
XM_005271010.1:c.323G>T	XP_005271067.1:p.Ser108Ile
XM_006710755.1:c.323G>T	XP_006710818.1:p.Ser108Ile
XM_006710756.1:c.323G>T	XP_006710819.1:p.Ser108Ile
XM_011541759.1:c.257G>T	XP_011540061.1:p.Ser86Ile
XM_011541760.1:c.257G>T	XP_011540062.1:p.Ser86Ile
XR_946706.1:n.482G>T
XM_011541760.3:c.257G>T	XP_011540062.1:p.Ser86Ile
XM_017001690.1:c.323G>T	XP_016857179.1:p.Ser108Ile
NM_001243766.2:c.323G>T	NP_001230695.2:p.Ser108Ile
NM_001290129.2:c.257G>T	NP_001277058.2:p.Ser86Ile
NM_001290130.2:c.-107G>T	NP_001277059.2:n.-107G>T
NM_017739.4:c.323G>T MANE Select	NP_060209.4:p.Ser108Ile