Canonical Allele Identifier: CA340172993

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46657770G>C (hg19) ; chr1:g.46192098G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192098G>C , CM000663.2:g.46192098G>C	GRCh38
NC_000001.10:g.46657770G>C , CM000663.1:g.46657770G>C	GRCh37
NC_000001.9:g.46430357G>C	NCBI36
NG_009205.2:g.33208C>G
NG_009205.3:g.33208C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1539C>G (POMGNT1)	ENSP00000379698.4:p.His513Gln
ENST00000477114.2:n.2101C>G (POMGNT1)
ENST00000497439.6:n.1711C>G (POMGNT1)
ENST00000684817.1:n.1899C>G (POMGNT1)
ENST00000684898.1:n.2101C>G (POMGNT1)
ENST00000685230.1:c.*849C>G (POMGNT1)	ENSP00000510305.1:n.*849C>G
ENST00000685275.1:n.2086C>G (POMGNT1)
ENST00000685444.1:c.1440C>G (POMGNT1)	ENSP00000510762.1:p.His480Gln
ENST00000685704.1:n.2101C>G (POMGNT1)
ENST00000685775.1:n.3066C>G (POMGNT1)
ENST00000685833.1:n.2417C>G (POMGNT1)
ENST00000686252.1:n.2613C>G (POMGNT1)
ENST00000686379.1:c.*663C>G (POMGNT1)	ENSP00000508913.1:n.*663C>G
ENST00000686724.1:n.1711C>G (POMGNT1)
ENST00000686737.1:c.1539C>G (POMGNT1)	ENSP00000508736.1:p.His513Gln
ENST00000687112.1:n.2405C>G (POMGNT1)
ENST00000687149.1:c.1539C>G (POMGNT1)	ENSP00000509745.1:p.His513Gln
ENST00000687197.1:c.*479C>G (POMGNT1)	ENSP00000510749.1:n.*479C>G
ENST00000687235.1:n.2101C>G (POMGNT1)
ENST00000687613.1:n.2289C>G (POMGNT1)
ENST00000687683.1:c.1539C>G (POMGNT1)	ENSP00000508522.1:p.His513Gln
ENST00000688032.1:n.2101C>G (POMGNT1)
ENST00000688596.1:n.2190C>G (POMGNT1)
ENST00000688608.1:c.1440C>G (POMGNT1)	ENSP00000508890.1:p.His480Gln
ENST00000688919.1:n.2735C>G (POMGNT1)
ENST00000689031.1:n.2101C>G (POMGNT1)
ENST00000689717.1:n.1711C>G (POMGNT1)
ENST00000689756.1:c.*1171C>G (POMGNT1)	ENSP00000509023.1:n.*1171C>G
ENST00000690377.1:n.1886C>G (POMGNT1)
ENST00000690678.1:c.1539C>G (POMGNT1)	ENSP00000508703.1:p.His513Gln
ENST00000691209.1:c.*479C>G (POMGNT1)	ENSP00000510112.1:n.*479C>G
ENST00000691243.1:c.1539C>G (POMGNT1)	ENSP00000510654.1:p.His513Gln
ENST00000692169.1:n.1688C>G (POMGNT1)
ENST00000692202.1:n.2114C>G (POMGNT1)
ENST00000692322.1:c.*1391C>G (POMGNT1)	ENSP00000509017.1:n.*1391C>G
ENST00000692369.1:c.1539C>G (POMGNT1)	ENSP00000508453.1:p.His513Gln
ENST00000692599.1:n.2101C>G (POMGNT1)
ENST00000692635.1:c.*479C>G (POMGNT1)	ENSP00000508425.1:n.*479C>G
ENST00000693168.1:n.1800C>G (POMGNT1)
ENST00000693218.1:c.1539C>G (POMGNT1)	ENSP00000510577.1:p.His513Gln
ENST00000693223.1:n.2487C>G (POMGNT1)
ENST00000693365.1:n.4173C>G (POMGNT1)
ENST00000371984.8:c.1539C>G (POMGNT1) MANE Select	ENSP00000361052.3:p.His513Gln
ENST00000371984.7:c.1539C>G (POMGNT1)	ENSP00000361052.3:p.His513Gln
ENST00000371992.1:c.1539C>G (POMGNT1)	ENSP00000361060.1:p.His513Gln
ENST00000396420.7:c.*1208C>G (POMGNT1)	ENSP00000379698.3:n.*1208C>G
ENST00000463030.1:n.160C>G (POMGNT1)
ENST00000485714.1:n.925C>G (POMGNT1)
NM_001243766.1:c.1539C>G (POMGNT1)	NP_001230695.1:p.His513Gln
NM_001290129.1:c.1473C>G (POMGNT1)	NP_001277058.1:p.His491Gln
NM_001290130.1:c.1110C>G (POMGNT1)	NP_001277059.1:p.His370Gln
NM_017739.3:c.1539C>G (POMGNT1)	NP_060209.3:p.His513Gln
XM_005271010.1:c.1539C>G (POMGNT1)	XP_005271067.1:p.His513Gln
XM_006710755.1:c.1539C>G (POMGNT1)	XP_006710818.1:p.His513Gln
XM_006710756.1:c.1539C>G (POMGNT1)	XP_006710819.1:p.His513Gln
XM_011540460.1:c.679-4104G>C (TSPAN1)	XP_011538762.1:n.679-4104G>C
XM_011540461.1:c.634-4104G>C (TSPAN1)	XP_011538763.1:n.634-4104G>C
XM_011541759.1:c.1473C>G (POMGNT1)	XP_011540061.1:p.His491Gln
XM_011541760.1:c.1473C>G (POMGNT1)	XP_011540062.1:p.His491Gln
XM_011541761.1:c.447C>G (POMGNT1)	XP_011540063.1:p.His149Gln
XM_011540460.3:c.679-4104G>C (TSPAN1)	XP_011538762.1:n.679-4104G>C
XM_011541760.3:c.1473C>G (POMGNT1)	XP_011540062.1:p.His491Gln
XM_017001690.1:c.1539C>G (POMGNT1)	XP_016857179.1:p.His513Gln
NM_001243766.2:c.1539C>G (POMGNT1)	NP_001230695.2:p.His513Gln
NM_001290129.2:c.1473C>G (POMGNT1)	NP_001277058.2:p.His491Gln
NM_001290130.2:c.1110C>G (POMGNT1)	NP_001277059.2:p.His370Gln
NM_017739.4:c.1539C>G (POMGNT1) MANE Select	NP_060209.4:p.His513Gln