Canonical Allele Identifier: CA2645441227

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46192299-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192299G>T , CM000663.2:g.46192299G>T	GRCh38
NC_000001.10:g.46657971G>T , CM000663.1:g.46657971G>T	GRCh37
NC_000001.9:g.46430558G>T	NCBI36
NG_009205.2:g.33007C>A
NG_009205.3:g.33007C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1413+9C>A (POMGNT1)	ENSP00000379698.4:n.1413+9C>A
ENST00000477114.2:n.1975+9C>A (POMGNT1)
ENST00000497439.6:n.1585+9C>A (POMGNT1)
ENST00000684817.1:n.1773+9C>A (POMGNT1)
ENST00000684898.1:n.1975+9C>A (POMGNT1)
ENST00000685230.1:c.*723+9C>A (POMGNT1)	ENSP00000510305.1:n.*723+9C>A
ENST00000685275.1:n.1960+9C>A (POMGNT1)
ENST00000685444.1:c.1314+9C>A (POMGNT1)	ENSP00000510762.1:n.1314+9C>A
ENST00000685704.1:n.1975+9C>A (POMGNT1)
ENST00000685775.1:n.2940+9C>A (POMGNT1)
ENST00000685833.1:n.2291+9C>A (POMGNT1)
ENST00000686252.1:n.2487+9C>A (POMGNT1)
ENST00000686379.1:c.*537+9C>A (POMGNT1)	ENSP00000508913.1:n.*537+9C>A
ENST00000686724.1:n.1585+9C>A (POMGNT1)
ENST00000686737.1:c.1413+9C>A (POMGNT1)	ENSP00000508736.1:n.1413+9C>A
ENST00000687112.1:n.2279+9C>A (POMGNT1)
ENST00000687149.1:c.1413+9C>A (POMGNT1)	ENSP00000509745.1:n.1413+9C>A
ENST00000687197.1:c.*353+9C>A (POMGNT1)	ENSP00000510749.1:n.*353+9C>A
ENST00000687235.1:n.1975+9C>A (POMGNT1)
ENST00000687613.1:n.2163+9C>A (POMGNT1)
ENST00000687683.1:c.1413+9C>A (POMGNT1)	ENSP00000508522.1:n.1413+9C>A
ENST00000688032.1:n.1975+9C>A (POMGNT1)
ENST00000688596.1:n.2064+9C>A (POMGNT1)
ENST00000688608.1:c.1314+9C>A (POMGNT1)	ENSP00000508890.1:n.1314+9C>A
ENST00000688919.1:n.2609+9C>A (POMGNT1)
ENST00000689031.1:n.1975+9C>A (POMGNT1)
ENST00000689717.1:n.1585+9C>A (POMGNT1)
ENST00000689756.1:c.*1045+9C>A (POMGNT1)	ENSP00000509023.1:n.*1045+9C>A
ENST00000690377.1:n.1760+9C>A (POMGNT1)
ENST00000690678.1:c.1413+9C>A (POMGNT1)	ENSP00000508703.1:n.1413+9C>A
ENST00000691209.1:c.*353+9C>A (POMGNT1)	ENSP00000510112.1:n.*353+9C>A
ENST00000691243.1:c.1413+9C>A (POMGNT1)	ENSP00000510654.1:n.1413+9C>A
ENST00000692169.1:n.1562+9C>A (POMGNT1)
ENST00000692202.1:n.1988+9C>A (POMGNT1)
ENST00000692322.1:c.*1265+9C>A (POMGNT1)	ENSP00000509017.1:n.*1265+9C>A
ENST00000692369.1:c.1413+9C>A (POMGNT1)	ENSP00000508453.1:n.1413+9C>A
ENST00000692599.1:n.1975+9C>A (POMGNT1)
ENST00000692635.1:c.*353+9C>A (POMGNT1)	ENSP00000508425.1:n.*353+9C>A
ENST00000693168.1:n.1674+9C>A (POMGNT1)
ENST00000693218.1:c.1413+9C>A (POMGNT1)	ENSP00000510577.1:n.1413+9C>A
ENST00000693223.1:n.2361+9C>A (POMGNT1)
ENST00000693365.1:n.4047+9C>A (POMGNT1)
ENST00000371984.8:c.1413+9C>A (POMGNT1) MANE Select	ENSP00000361052.3:n.1413+9C>A
ENST00000371984.7:c.1413+9C>A (POMGNT1)	ENSP00000361052.3:n.1413+9C>A
ENST00000371992.1:c.1413+9C>A (POMGNT1)	ENSP00000361060.1:n.1413+9C>A
ENST00000396420.7:c.*1082+9C>A (POMGNT1)	ENSP00000379698.3:n.*1082+9C>A
ENST00000463030.1:n.34+9C>A (POMGNT1)
ENST00000485714.1:n.799+9C>A (POMGNT1)
NM_001243766.1:c.1413+9C>A (POMGNT1)	NP_001230695.1:n.1413+9C>A
NM_001290129.1:c.1347+9C>A (POMGNT1)	NP_001277058.1:n.1347+9C>A
NM_001290130.1:c.984+9C>A (POMGNT1)	NP_001277059.1:n.984+9C>A
NM_017739.3:c.1413+9C>A (POMGNT1)	NP_060209.3:n.1413+9C>A
XM_005271010.1:c.1413+9C>A (POMGNT1)	XP_005271067.1:n.1413+9C>A
XM_006710755.1:c.1413+9C>A (POMGNT1)	XP_006710818.1:n.1413+9C>A
XM_006710756.1:c.1413+9C>A (POMGNT1)	XP_006710819.1:n.1413+9C>A
XM_011540460.1:c.679-3903G>T (TSPAN1)	XP_011538762.1:n.679-3903G>T
XM_011540461.1:c.634-3903G>T (TSPAN1)	XP_011538763.1:n.634-3903G>T
XM_011541759.1:c.1347+9C>A (POMGNT1)	XP_011540061.1:n.1347+9C>A
XM_011541760.1:c.1347+9C>A (POMGNT1)	XP_011540062.1:n.1347+9C>A
XM_011541761.1:c.321+9C>A (POMGNT1)	XP_011540063.1:n.321+9C>A
XR_946706.1:n.1573+9C>A (POMGNT1)
XM_011540460.3:c.679-3903G>T (TSPAN1)	XP_011538762.1:n.679-3903G>T
XM_011541760.3:c.1347+9C>A (POMGNT1)	XP_011540062.1:n.1347+9C>A
XM_017001690.1:c.1413+9C>A (POMGNT1)	XP_016857179.1:n.1413+9C>A
NM_001243766.2:c.1413+9C>A (POMGNT1)	NP_001230695.2:n.1413+9C>A
NM_001290129.2:c.1347+9C>A (POMGNT1)	NP_001277058.2:n.1347+9C>A
NM_001290130.2:c.984+9C>A (POMGNT1)	NP_001277059.2:n.984+9C>A
NM_017739.4:c.1413+9C>A (POMGNT1) MANE Select	NP_060209.4:n.1413+9C>A