Canonical Allele Identifier: CA16040742

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 371525
• ClinVar RCV Id: RCV000409263
• dbSNP Id: rs1057517340
• MyVariant Identifiers: chr1:g.46655241T>C (hg19) ; chr1:g.46189569T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189569T>C , CM000663.2:g.46189569T>C	GRCh38
NC_000001.10:g.46655241T>C , CM000663.1:g.46655241T>C	GRCh37
NC_000001.9:g.46427828T>C	NCBI36
NG_009205.2:g.35737A>G
NG_009205.3:g.35737A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1786-2A>G (POMGNT1)	ENSP00000379698.4:n.1786-2A>G
ENST00000497439.6:n.1958-2A>G (POMGNT1)
ENST00000684817.1:n.2146-2A>G (POMGNT1)
ENST00000684898.1:n.2348-2A>G (POMGNT1)
ENST00000685230.1:c.*1096-2A>G (POMGNT1)	ENSP00000510305.1:n.*1096-2A>G
ENST00000685275.1:n.2333-2A>G (POMGNT1)
ENST00000685444.1:c.1687-2A>G (POMGNT1)	ENSP00000510762.1:n.1687-2A>G
ENST00000685704.1:n.2452-2A>G (POMGNT1)
ENST00000685833.1:n.4179-2A>G (POMGNT1)
ENST00000686252.1:n.2860-2A>G (POMGNT1)
ENST00000686379.1:c.*910-2A>G (POMGNT1)	ENSP00000508913.1:n.*910-2A>G
ENST00000686724.1:n.3473-2A>G (POMGNT1)
ENST00000686737.1:c.1786-2A>G (POMGNT1)	ENSP00000508736.1:n.1786-2A>G
ENST00000687112.1:n.2652-2A>G (POMGNT1)
ENST00000687149.1:c.1825-2A>G (POMGNT1)	ENSP00000509745.1:n.1825-2A>G
ENST00000687197.1:c.*726-2A>G (POMGNT1)	ENSP00000510749.1:n.*726-2A>G
ENST00000687235.1:n.3863-2A>G (POMGNT1)
ENST00000687613.1:n.2426-2A>G (POMGNT1)
ENST00000687683.1:c.1786-2A>G (POMGNT1)	ENSP00000508522.1:n.1786-2A>G
ENST00000688032.1:n.2323-2A>G (POMGNT1)
ENST00000688596.1:n.2437-2A>G (POMGNT1)
ENST00000688608.1:c.1687-2A>G (POMGNT1)	ENSP00000508890.1:n.1687-2A>G
ENST00000689031.1:n.2238-2A>G (POMGNT1)
ENST00000689756.1:c.*1418-2A>G (POMGNT1)	ENSP00000509023.1:n.*1418-2A>G
ENST00000690377.1:n.2133-2A>G (POMGNT1)
ENST00000690678.1:c.1786-2A>G (POMGNT1)	ENSP00000508703.1:n.1786-2A>G
ENST00000691185.1:n.255A>G (POMGNT1)
ENST00000691209.1:c.*726-2A>G (POMGNT1)	ENSP00000510112.1:n.*726-2A>G
ENST00000691243.1:c.*177-2A>G (POMGNT1)	ENSP00000510654.1:n.*177-2A>G
ENST00000692202.1:n.2361-2A>G (POMGNT1)
ENST00000692322.1:c.*1573-2A>G (POMGNT1)	ENSP00000509017.1:n.*1573-2A>G
ENST00000692369.1:c.1786-2A>G (POMGNT1)	ENSP00000508453.1:n.1786-2A>G
ENST00000692599.1:n.3661-2A>G (POMGNT1)
ENST00000692635.1:c.*661-2A>G (POMGNT1)	ENSP00000508425.1:n.*661-2A>G
ENST00000693168.1:n.3562-2A>G (POMGNT1)
ENST00000693218.1:c.*347-2A>G (POMGNT1)	ENSP00000510577.1:n.*347-2A>G
ENST00000693223.1:n.2734-2A>G (POMGNT1)
ENST00000371984.8:c.1786-2A>G (POMGNT1) MANE Select	ENSP00000361052.3:n.1786-2A>G
ENST00000371984.7:c.1786-2A>G (POMGNT1)	ENSP00000361052.3:n.1786-2A>G
ENST00000371992.1:c.1786-2A>G (POMGNT1)	ENSP00000361060.1:n.1786-2A>G
ENST00000396420.7:c.*1455-2A>G (POMGNT1)	ENSP00000379698.3:n.*1455-2A>G
ENST00000480972.1:n.435-2A>G (POMGNT1)
NM_001243766.1:c.1786-2A>G (POMGNT1)	NP_001230695.1:n.1786-2A>G
NM_001290129.1:c.1720-2A>G (POMGNT1)	NP_001277058.1:n.1720-2A>G
NM_001290130.1:c.1357-2A>G (POMGNT1)	NP_001277059.1:n.1357-2A>G
NM_017739.3:c.1786-2A>G (POMGNT1)	NP_060209.3:n.1786-2A>G
XM_005271010.1:c.1786-2A>G (POMGNT1)	XP_005271067.1:n.1786-2A>G
XM_006710755.1:c.1786-2A>G (POMGNT1)	XP_006710818.1:n.1786-2A>G
XM_006710756.1:c.1786-2A>G (POMGNT1)	XP_006710819.1:n.1786-2A>G
XM_011540460.1:c.678+4261T>C (TSPAN1)	XP_011538762.1:n.678+4261T>C
XM_011540461.1:c.633+4261T>C (TSPAN1)	XP_011538763.1:n.633+4261T>C
XM_011541759.1:c.1720-2A>G (POMGNT1)	XP_011540061.1:n.1720-2A>G
XM_011541760.1:c.1720-2A>G (POMGNT1)	XP_011540062.1:n.1720-2A>G
XM_011541761.1:c.694-2A>G (POMGNT1)	XP_011540063.1:n.694-2A>G
XM_011540460.3:c.678+4261T>C (TSPAN1)	XP_011538762.1:n.678+4261T>C
XM_011541760.3:c.1720-2A>G (POMGNT1)	XP_011540062.1:n.1720-2A>G
XM_017001690.1:c.1786-2A>G (POMGNT1)	XP_016857179.1:n.1786-2A>G
NM_001243766.2:c.1786-2A>G (POMGNT1)	NP_001230695.2:n.1786-2A>G
NM_001290129.2:c.1720-2A>G (POMGNT1)	NP_001277058.2:n.1720-2A>G
NM_001290130.2:c.1357-2A>G (POMGNT1)	NP_001277059.2:n.1357-2A>G
NM_017739.4:c.1786-2A>G (POMGNT1) MANE Select	NP_060209.4:n.1786-2A>G