Canonical Allele Identifier: CA833180
Community Standard Title: NM_017739.4(POMGNT1):c.1961C>T (p.Pro654Leu)
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189292G>A , CM000663.2:g.46189292G>A GRCh38
NC_000001.10:g.46654964G>A , CM000663.1:g.46654964G>A GRCh37
NC_000001.9:g.46427551G>A NCBI36
NG_009205.2:g.36014C>T
NG_009205.3:g.36014C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017739.4:c.1961C>T (POMGNT1) MANE Select NP_060209.4:p.Pro654Leu
ENST00000371984.8:c.1961C>T (POMGNT1) MANE Select ENSP00000361052.3:p.Pro654Leu
NM_001243766.1:c.1935C>T (POMGNT1) NP_001230695.1:p.Pro645=
NM_001243766.2:c.1935C>T (POMGNT1) NP_001230695.2:p.Pro645=
NM_001290129.1:c.1895C>T (POMGNT1) NP_001277058.1:p.Pro632Leu
NM_001290129.2:c.1895C>T (POMGNT1) NP_001277058.2:p.Pro632Leu
NM_001290130.1:c.1532C>T (POMGNT1) NP_001277059.1:p.Pro511Leu
NM_001290130.2:c.1532C>T (POMGNT1) NP_001277059.2:p.Pro511Leu
NM_017739.3:c.1961C>T (POMGNT1) NP_060209.3:p.Pro654Leu
ENST00000371984.7:c.1961C>T (POMGNT1) ENSP00000361052.3:p.Pro654Leu
ENST00000371992.1:c.1935C>T (POMGNT1) ENSP00000361060.1:p.Pro645=
ENST00000396420.7:c.*1630C>T (POMGNT1) ENSP00000379698.3:n.*1630C>T
ENST00000396420.8:c.1961C>T (POMGNT1) ENSP00000379698.4:p.Pro654Leu
ENST00000475642.1:n.110+166C>T (POMGNT1)
ENST00000497439.6:n.2133C>T (POMGNT1)
ENST00000684817.1:n.2321C>T (POMGNT1)
ENST00000684898.1:n.2623C>T (POMGNT1)
ENST00000685230.1:c.*1271C>T (POMGNT1) ENSP00000510305.1:n.*1271C>T
ENST00000685275.1:n.2508C>T (POMGNT1)
ENST00000685444.1:c.1862C>T (POMGNT1) ENSP00000510762.1:p.Pro621Leu
ENST00000685704.1:n.2627C>T (POMGNT1)
ENST00000685833.1:n.4354C>T (POMGNT1)
ENST00000686252.1:n.3035C>T (POMGNT1)
ENST00000686379.1:c.*1085C>T (POMGNT1) ENSP00000508913.1:n.*1085C>T
ENST00000686724.1:n.3648C>T (POMGNT1)
ENST00000686737.1:c.1961C>T (POMGNT1) ENSP00000508736.1:p.Pro654Leu
ENST00000687112.1:n.2827C>T (POMGNT1)
ENST00000687149.1:c.2000C>T (POMGNT1) ENSP00000509745.1:p.Pro667Leu
ENST00000687197.1:c.*835+166C>T (POMGNT1) ENSP00000510749.1:n.*835+166C>T
ENST00000687235.1:n.4038C>T (POMGNT1)
ENST00000687613.1:n.2601C>T (POMGNT1)
ENST00000687683.1:c.1961C>T (POMGNT1) ENSP00000508522.1:p.Pro654Leu
ENST00000688032.1:n.2498C>T (POMGNT1)
ENST00000688596.1:n.2612C>T (POMGNT1)
ENST00000688608.1:c.1862C>T (POMGNT1) ENSP00000508890.1:p.Pro621Leu
ENST00000689031.1:n.2347+166C>T (POMGNT1)
ENST00000689756.1:c.*1593C>T (POMGNT1) ENSP00000509023.1:n.*1593C>T
ENST00000690377.1:n.2308C>T (POMGNT1)
ENST00000690678.1:c.1961C>T (POMGNT1) ENSP00000508703.1:p.Pro654Leu
ENST00000691185.1:n.432C>T (POMGNT1)
ENST00000691209.1:c.*901C>T (POMGNT1) ENSP00000510112.1:n.*901C>T
ENST00000691243.1:c.*352C>T (POMGNT1) ENSP00000510654.1:n.*352C>T
ENST00000692202.1:n.2536C>T (POMGNT1)
ENST00000692322.1:c.*1848C>T (POMGNT1) ENSP00000509017.1:n.*1848C>T
ENST00000692369.1:c.1895+166C>T (POMGNT1) ENSP00000508453.1:n.1895+166C>T
ENST00000692599.1:n.3836C>T (POMGNT1)
ENST00000692635.1:c.*836C>T (POMGNT1) ENSP00000508425.1:n.*836C>T
ENST00000693168.1:n.3737C>T (POMGNT1)
ENST00000693218.1:c.*522C>T (POMGNT1) ENSP00000510577.1:n.*522C>T
ENST00000693223.1:n.2909C>T (POMGNT1)
XM_005271010.1:c.1895+166C>T (POMGNT1) XP_005271067.1:n.1895+166C>T
XM_006710755.1:c.1895+166C>T (POMGNT1) XP_006710818.1:n.1895+166C>T
XM_006710756.1:c.1935C>T (POMGNT1) XP_006710819.1:p.Pro645=
XM_011540460.1:c.678+3984G>A (TSPAN1) XP_011538762.1:n.678+3984G>A
XM_011540460.3:c.678+3984G>A (TSPAN1) XP_011538762.1:n.678+3984G>A
XM_011540461.1:c.633+3984G>A (TSPAN1) XP_011538763.1:n.633+3984G>A
XM_011541759.1:c.1829+166C>T (POMGNT1) XP_011540061.1:n.1829+166C>T
XM_011541760.1:c.1895C>T (POMGNT1) XP_011540062.1:p.Pro632Leu
XM_011541760.3:c.1895C>T (POMGNT1) XP_011540062.1:p.Pro632Leu
XM_011541761.1:c.803+166C>T (POMGNT1) XP_011540063.1:n.803+166C>T
XM_017001690.1:c.1961C>T (POMGNT1) XP_016857179.1:p.Pro654Leu