Canonical Allele Identifier: CA833261

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs374695414
• ExAC: 1:46655634 C / T
• gnomAD v2: 1-46655634-C-T
• MyVariant Identifiers: chr1:g.46655634C>T (hg19) ; chr1:g.46189962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189962C>T , CM000663.2:g.46189962C>T	GRCh38
NC_000001.10:g.46655634C>T , CM000663.1:g.46655634C>T	GRCh37
NC_000001.9:g.46428221C>T	NCBI36
NG_009205.2:g.35344G>A
NG_009205.3:g.35344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1677G>A (POMGNT1)	ENSP00000379698.4:p.Lys559=
ENST00000497439.6:n.1849G>A (POMGNT1)
ENST00000684817.1:n.2037G>A (POMGNT1)
ENST00000684898.1:n.2239G>A (POMGNT1)
ENST00000685230.1:c.*987G>A (POMGNT1)	ENSP00000510305.1:n.*987G>A
ENST00000685275.1:n.2224G>A (POMGNT1)
ENST00000685444.1:c.1578G>A (POMGNT1)	ENSP00000510762.1:p.Lys526=
ENST00000685704.1:n.2343G>A (POMGNT1)
ENST00000685833.1:n.4070G>A (POMGNT1)
ENST00000686252.1:n.2751G>A (POMGNT1)
ENST00000686379.1:c.*801G>A (POMGNT1)	ENSP00000508913.1:n.*801G>A
ENST00000686724.1:n.3364G>A (POMGNT1)
ENST00000686737.1:c.1677G>A (POMGNT1)	ENSP00000508736.1:p.Lys559=
ENST00000687112.1:n.2543G>A (POMGNT1)
ENST00000687149.1:c.1716G>A (POMGNT1)	ENSP00000509745.1:p.Lys572=
ENST00000687197.1:c.*617G>A (POMGNT1)	ENSP00000510749.1:n.*617G>A
ENST00000687235.1:n.3754G>A (POMGNT1)
ENST00000687613.1:n.2317G>A (POMGNT1)
ENST00000687683.1:c.1677G>A (POMGNT1)	ENSP00000508522.1:p.Lys559=
ENST00000688032.1:n.2214G>A (POMGNT1)
ENST00000688596.1:n.2328G>A (POMGNT1)
ENST00000688608.1:c.1578G>A (POMGNT1)	ENSP00000508890.1:p.Lys526=
ENST00000689031.1:n.2129G>A (POMGNT1)
ENST00000689756.1:c.*1309G>A (POMGNT1)	ENSP00000509023.1:n.*1309G>A
ENST00000690377.1:n.2024G>A (POMGNT1)
ENST00000690678.1:c.1677G>A (POMGNT1)	ENSP00000508703.1:p.Lys559=
ENST00000691209.1:c.*617G>A (POMGNT1)	ENSP00000510112.1:n.*617G>A
ENST00000691243.1:c.*68G>A (POMGNT1)	ENSP00000510654.1:n.*68G>A
ENST00000692202.1:n.2252G>A (POMGNT1)
ENST00000692322.1:c.*1464G>A (POMGNT1)	ENSP00000509017.1:n.*1464G>A
ENST00000692369.1:c.1677G>A (POMGNT1)	ENSP00000508453.1:p.Lys559=
ENST00000692599.1:n.3552G>A (POMGNT1)
ENST00000692635.1:c.*552G>A (POMGNT1)	ENSP00000508425.1:n.*552G>A
ENST00000693168.1:n.3453G>A (POMGNT1)
ENST00000693218.1:c.*238G>A (POMGNT1)	ENSP00000510577.1:n.*238G>A
ENST00000693223.1:n.2625G>A (POMGNT1)
ENST00000371984.8:c.1677G>A (POMGNT1) MANE Select	ENSP00000361052.3:p.Lys559=
ENST00000371984.7:c.1677G>A (POMGNT1)	ENSP00000361052.3:p.Lys559=
ENST00000371992.1:c.1677G>A (POMGNT1)	ENSP00000361060.1:p.Lys559=
ENST00000396420.7:c.*1346G>A (POMGNT1)	ENSP00000379698.3:n.*1346G>A
ENST00000480972.1:n.326G>A (POMGNT1)
NM_001243766.1:c.1677G>A (POMGNT1)	NP_001230695.1:p.Lys559=
NM_001290129.1:c.1611G>A (POMGNT1)	NP_001277058.1:p.Lys537=
NM_001290130.1:c.1248G>A (POMGNT1)	NP_001277059.1:p.Lys416=
NM_017739.3:c.1677G>A (POMGNT1)	NP_060209.3:p.Lys559=
XM_005271010.1:c.1677G>A (POMGNT1)	XP_005271067.1:p.Lys559=
XM_006710755.1:c.1677G>A (POMGNT1)	XP_006710818.1:p.Lys559=
XM_006710756.1:c.1677G>A (POMGNT1)	XP_006710819.1:p.Lys559=
XM_011540460.1:c.678+4654C>T (TSPAN1)	XP_011538762.1:n.678+4654C>T
XM_011540461.1:c.633+4654C>T (TSPAN1)	XP_011538763.1:n.633+4654C>T
XM_011541759.1:c.1611G>A (POMGNT1)	XP_011540061.1:p.Lys537=
XM_011541760.1:c.1611G>A (POMGNT1)	XP_011540062.1:p.Lys537=
XM_011541761.1:c.585G>A (POMGNT1)	XP_011540063.1:p.Lys195=
XM_011540460.3:c.678+4654C>T (TSPAN1)	XP_011538762.1:n.678+4654C>T
XM_011541760.3:c.1611G>A (POMGNT1)	XP_011540062.1:p.Lys537=
XM_017001690.1:c.1677G>A (POMGNT1)	XP_016857179.1:p.Lys559=
NM_001243766.2:c.1677G>A (POMGNT1)	NP_001230695.2:p.Lys559=
NM_001290129.2:c.1611G>A (POMGNT1)	NP_001277058.2:p.Lys537=
NM_001290130.2:c.1248G>A (POMGNT1)	NP_001277059.2:p.Lys416=
NM_017739.4:c.1677G>A (POMGNT1) MANE Select	NP_060209.4:p.Lys559=