Canonical Allele Identifier: CA833192

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189342G>C , CM000663.2:g.46189342G>C	GRCh38
NC_000001.10:g.46655014G>C , CM000663.1:g.46655014G>C	GRCh37
NC_000001.9:g.46427601G>C	NCBI36
NG_009205.2:g.35964C>G
NG_009205.3:g.35964C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017739.4:c.1911C>G (POMGNT1) MANE Select	NP_060209.4:p.Pro637=
ENST00000371984.8:c.1911C>G (POMGNT1) MANE Select	ENSP00000361052.3:p.Pro637=
NM_001243766.1:c.1885C>G (POMGNT1)	NP_001230695.1:p.Leu629Val
NM_001243766.2:c.1885C>G (POMGNT1)	NP_001230695.2:p.Leu629Val
NM_001290129.1:c.1845C>G (POMGNT1)	NP_001277058.1:p.Pro615=
NM_001290129.2:c.1845C>G (POMGNT1)	NP_001277058.2:p.Pro615=
NM_001290130.1:c.1482C>G (POMGNT1)	NP_001277059.1:p.Pro494=
NM_001290130.2:c.1482C>G (POMGNT1)	NP_001277059.2:p.Pro494=
NM_017739.3:c.1911C>G (POMGNT1)	NP_060209.3:p.Pro637=
ENST00000371984.7:c.1911C>G (POMGNT1)	ENSP00000361052.3:p.Pro637=
ENST00000371992.1:c.1885C>G (POMGNT1)	ENSP00000361060.1:p.Leu629Val
ENST00000396420.7:c.*1580C>G (POMGNT1)	ENSP00000379698.3:n.*1580C>G
ENST00000396420.8:c.1911C>G (POMGNT1)	ENSP00000379698.4:p.Pro637=
ENST00000475642.1:n.110+116C>G (POMGNT1)
ENST00000497439.6:n.2083C>G (POMGNT1)
ENST00000684817.1:n.2271C>G (POMGNT1)
ENST00000684898.1:n.2573C>G (POMGNT1)
ENST00000685230.1:c.*1221C>G (POMGNT1)	ENSP00000510305.1:n.*1221C>G
ENST00000685275.1:n.2458C>G (POMGNT1)
ENST00000685444.1:c.1812C>G (POMGNT1)	ENSP00000510762.1:p.Pro604=
ENST00000685704.1:n.2577C>G (POMGNT1)
ENST00000685833.1:n.4304C>G (POMGNT1)
ENST00000686252.1:n.2985C>G (POMGNT1)
ENST00000686379.1:c.*1035C>G (POMGNT1)	ENSP00000508913.1:n.*1035C>G
ENST00000686724.1:n.3598C>G (POMGNT1)
ENST00000686737.1:c.1911C>G (POMGNT1)	ENSP00000508736.1:p.Pro637=
ENST00000687112.1:n.2777C>G (POMGNT1)
ENST00000687149.1:c.1950C>G (POMGNT1)	ENSP00000509745.1:p.Pro650=
ENST00000687197.1:c.*835+116C>G (POMGNT1)	ENSP00000510749.1:n.*835+116C>G
ENST00000687235.1:n.3988C>G (POMGNT1)
ENST00000687613.1:n.2551C>G (POMGNT1)
ENST00000687683.1:c.1911C>G (POMGNT1)	ENSP00000508522.1:p.Pro637=
ENST00000688032.1:n.2448C>G (POMGNT1)
ENST00000688596.1:n.2562C>G (POMGNT1)
ENST00000688608.1:c.1812C>G (POMGNT1)	ENSP00000508890.1:p.Pro604=
ENST00000689031.1:n.2347+116C>G (POMGNT1)
ENST00000689756.1:c.*1543C>G (POMGNT1)	ENSP00000509023.1:n.*1543C>G
ENST00000690377.1:n.2258C>G (POMGNT1)
ENST00000690678.1:c.1911C>G (POMGNT1)	ENSP00000508703.1:p.Pro637=
ENST00000691185.1:n.382C>G (POMGNT1)
ENST00000691209.1:c.*851C>G (POMGNT1)	ENSP00000510112.1:n.*851C>G
ENST00000691243.1:c.*302C>G (POMGNT1)	ENSP00000510654.1:n.*302C>G
ENST00000692202.1:n.2486C>G (POMGNT1)
ENST00000692322.1:c.*1798C>G (POMGNT1)	ENSP00000509017.1:n.*1798C>G
ENST00000692369.1:c.1895+116C>G (POMGNT1)	ENSP00000508453.1:n.1895+116C>G
ENST00000692599.1:n.3786C>G (POMGNT1)
ENST00000692635.1:c.*786C>G (POMGNT1)	ENSP00000508425.1:n.*786C>G
ENST00000693168.1:n.3687C>G (POMGNT1)
ENST00000693218.1:c.*472C>G (POMGNT1)	ENSP00000510577.1:n.*472C>G
ENST00000693223.1:n.2859C>G (POMGNT1)
XM_005271010.1:c.1895+116C>G (POMGNT1)	XP_005271067.1:n.1895+116C>G
XM_006710755.1:c.1895+116C>G (POMGNT1)	XP_006710818.1:n.1895+116C>G
XM_006710756.1:c.1885C>G (POMGNT1)	XP_006710819.1:p.Leu629Val
XM_011540460.1:c.678+4034G>C (TSPAN1)	XP_011538762.1:n.678+4034G>C
XM_011540460.3:c.678+4034G>C (TSPAN1)	XP_011538762.1:n.678+4034G>C
XM_011540461.1:c.633+4034G>C (TSPAN1)	XP_011538763.1:n.633+4034G>C
XM_011541759.1:c.1829+116C>G (POMGNT1)	XP_011540061.1:n.1829+116C>G
XM_011541760.1:c.1845C>G (POMGNT1)	XP_011540062.1:p.Pro615=
XM_011541760.3:c.1845C>G (POMGNT1)	XP_011540062.1:p.Pro615=
XM_011541761.1:c.803+116C>G (POMGNT1)	XP_011540063.1:n.803+116C>G
XM_017001690.1:c.1911C>G (POMGNT1)	XP_016857179.1:p.Pro637=