Canonical Allele Identifier: CA340170749

Gene: POMGNT1 TSPAN1

Linked Data

• COSMIC: COSM4716633 ; COSM4716634
• MyVariant Identifiers: chr1:g.46655152C>G (hg19) ; chr1:g.46189480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189480C>G , CM000663.2:g.46189480C>G	GRCh38
NC_000001.10:g.46655152C>G , CM000663.1:g.46655152C>G	GRCh37
NC_000001.9:g.46427739C>G	NCBI36
NG_009205.2:g.35826G>C
NG_009205.3:g.35826G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1873G>C (POMGNT1)	ENSP00000379698.4:p.Gly625Arg
ENST00000497439.6:n.2045G>C (POMGNT1)
ENST00000684817.1:n.2233G>C (POMGNT1)
ENST00000684898.1:n.2435G>C (POMGNT1)
ENST00000685230.1:c.*1183G>C (POMGNT1)	ENSP00000510305.1:n.*1183G>C
ENST00000685275.1:n.2420G>C (POMGNT1)
ENST00000685444.1:c.1774G>C (POMGNT1)	ENSP00000510762.1:p.Gly592Arg
ENST00000685704.1:n.2539G>C (POMGNT1)
ENST00000685833.1:n.4266G>C (POMGNT1)
ENST00000686252.1:n.2947G>C (POMGNT1)
ENST00000686379.1:c.*997G>C (POMGNT1)	ENSP00000508913.1:n.*997G>C
ENST00000686724.1:n.3560G>C (POMGNT1)
ENST00000686737.1:c.1873G>C (POMGNT1)	ENSP00000508736.1:p.Gly625Arg
ENST00000687112.1:n.2739G>C (POMGNT1)
ENST00000687149.1:c.1912G>C (POMGNT1)	ENSP00000509745.1:p.Gly638Arg
ENST00000687197.1:c.*813G>C (POMGNT1)	ENSP00000510749.1:n.*813G>C
ENST00000687235.1:n.3950G>C (POMGNT1)
ENST00000687613.1:n.2513G>C (POMGNT1)
ENST00000687683.1:c.1873G>C (POMGNT1)	ENSP00000508522.1:p.Gly625Arg
ENST00000688032.1:n.2410G>C (POMGNT1)
ENST00000688596.1:n.2524G>C (POMGNT1)
ENST00000688608.1:c.1774G>C (POMGNT1)	ENSP00000508890.1:p.Gly592Arg
ENST00000689031.1:n.2325G>C (POMGNT1)
ENST00000689756.1:c.*1505G>C (POMGNT1)	ENSP00000509023.1:n.*1505G>C
ENST00000690377.1:n.2220G>C (POMGNT1)
ENST00000690678.1:c.1873G>C (POMGNT1)	ENSP00000508703.1:p.Gly625Arg
ENST00000691185.1:n.344G>C (POMGNT1)
ENST00000691209.1:c.*813G>C (POMGNT1)	ENSP00000510112.1:n.*813G>C
ENST00000691243.1:c.*264G>C (POMGNT1)	ENSP00000510654.1:n.*264G>C
ENST00000692202.1:n.2448G>C (POMGNT1)
ENST00000692322.1:c.*1660G>C (POMGNT1)	ENSP00000509017.1:n.*1660G>C
ENST00000692369.1:c.1873G>C (POMGNT1)	ENSP00000508453.1:p.Gly625Arg
ENST00000692599.1:n.3748G>C (POMGNT1)
ENST00000692635.1:c.*748G>C (POMGNT1)	ENSP00000508425.1:n.*748G>C
ENST00000693168.1:n.3649G>C (POMGNT1)
ENST00000693218.1:c.*434G>C (POMGNT1)	ENSP00000510577.1:n.*434G>C
ENST00000693223.1:n.2821G>C (POMGNT1)
ENST00000371984.8:c.1873G>C (POMGNT1) MANE Select	ENSP00000361052.3:p.Gly625Arg
ENST00000371984.7:c.1873G>C (POMGNT1)	ENSP00000361052.3:p.Gly625Arg
ENST00000371992.1:c.1869+4G>C (POMGNT1)	ENSP00000361060.1:n.1869+4G>C
ENST00000396420.7:c.*1542G>C (POMGNT1)	ENSP00000379698.3:n.*1542G>C
ENST00000475642.1:n.88G>C (POMGNT1)
NM_001243766.1:c.1869+4G>C (POMGNT1)	NP_001230695.1:n.1869+4G>C
NM_001290129.1:c.1807G>C (POMGNT1)	NP_001277058.1:p.Gly603Arg
NM_001290130.1:c.1444G>C (POMGNT1)	NP_001277059.1:p.Gly482Arg
NM_017739.3:c.1873G>C (POMGNT1)	NP_060209.3:p.Gly625Arg
XM_005271010.1:c.1873G>C (POMGNT1)	XP_005271067.1:p.Gly625Arg
XM_006710755.1:c.1873G>C (POMGNT1)	XP_006710818.1:p.Gly625Arg
XM_006710756.1:c.1869+4G>C (POMGNT1)	XP_006710819.1:n.1869+4G>C
XM_011540460.1:c.678+4172C>G (TSPAN1)	XP_011538762.1:n.678+4172C>G
XM_011540461.1:c.633+4172C>G (TSPAN1)	XP_011538763.1:n.633+4172C>G
XM_011541759.1:c.1807G>C (POMGNT1)	XP_011540061.1:p.Gly603Arg
XM_011541760.1:c.1807G>C (POMGNT1)	XP_011540062.1:p.Gly603Arg
XM_011541761.1:c.781G>C (POMGNT1)	XP_011540063.1:p.Gly261Arg
XM_011540460.3:c.678+4172C>G (TSPAN1)	XP_011538762.1:n.678+4172C>G
XM_011541760.3:c.1807G>C (POMGNT1)	XP_011540062.1:p.Gly603Arg
XM_017001690.1:c.1873G>C (POMGNT1)	XP_016857179.1:p.Gly625Arg
NM_001243766.2:c.1869+4G>C (POMGNT1)	NP_001230695.2:n.1869+4G>C
NM_001290129.2:c.1807G>C (POMGNT1)	NP_001277058.2:p.Gly603Arg
NM_001290130.2:c.1444G>C (POMGNT1)	NP_001277059.2:p.Gly482Arg
NM_017739.4:c.1873G>C (POMGNT1) MANE Select	NP_060209.4:p.Gly625Arg