Canonical Allele Identifier: CA2739271686

Gene: AGPS

Linked Data

• ClinVar Variation Id: 2854551
• ClinVar RCV Id: RCV003688709

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177462032T>C , CM000664.2:g.177462032T>C	GRCh38
NC_000002.11:g.178326760T>C , CM000664.1:g.178326760T>C	GRCh37
NC_000002.10:g.178035006T>C	NCBI36
NG_008968.1:g.74290T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.996+14T>C MANE Select	ENSP00000264167.4:n.996+14T>C
ENST00000460342.2:n.2422T>C
ENST00000637633.2:c.996+14T>C	ENSP00000490844.2:n.996+14T>C
ENST00000642466.2:c.996+14T>C	ENSP00000494433.2:n.996+14T>C
ENST00000679421.1:n.2225+14T>C
ENST00000679459.1:c.996+14T>C	ENSP00000506137.1:n.996+14T>C
ENST00000679478.1:c.726+14T>C	ENSP00000506484.1:n.726+14T>C
ENST00000679639.1:n.813T>C
ENST00000679994.1:c.726+14T>C	ENSP00000504957.1:n.726+14T>C
ENST00000680028.1:n.2360+14T>C
ENST00000680155.1:c.726+14T>C	ENSP00000505333.1:n.726+14T>C
ENST00000680705.1:n.1040+14T>C
ENST00000680770.1:c.996+14T>C	ENSP00000505536.1:n.996+14T>C
ENST00000680893.1:c.*244+14T>C	ENSP00000505929.1:n.*244+14T>C
ENST00000680910.1:n.1026+14T>C
ENST00000681028.1:c.726+14T>C	ENSP00000506323.1:n.726+14T>C
ENST00000681032.1:c.*374+14T>C	ENSP00000505205.1:n.*374+14T>C
ENST00000681449.1:c.726+14T>C	ENSP00000505342.1:n.726+14T>C
ENST00000681565.1:c.996+14T>C	ENSP00000505620.1:n.996+14T>C
ENST00000681752.1:c.*766+14T>C	ENSP00000504994.1:n.*766+14T>C
ENST00000681891.1:n.4740+14T>C
ENST00000264167.8:c.996+14T>C	ENSP00000264167.4:n.996+14T>C
ENST00000409888.1:c.350+41674T>C	ENSP00000386688.1:n.350+41674T>C
NM_003659.3:c.996+14T>C	NP_003650.1:n.996+14T>C
XM_011512041.1:c.726+14T>C	XP_011510343.1:n.726+14T>C
XM_011512042.1:c.726+14T>C	XP_011510344.1:n.726+14T>C
XM_011512043.1:c.261+14T>C	XP_011510345.1:n.261+14T>C
XM_011512044.1:c.996+14T>C	XP_011510346.1:n.996+14T>C
XM_011512045.1:c.996+14T>C	XP_011510347.1:n.996+14T>C
XM_011512041.2:c.726+14T>C	XP_011510343.1:n.726+14T>C
XM_011512043.2:c.261+14T>C	XP_011510345.1:n.261+14T>C
XR_001739007.2:n.1013+14T>C
NM_003659.4:c.996+14T>C MANE Select	NP_003650.1:n.996+14T>C