Canonical Allele Identifier: CA1980467

Gene: AGPS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177538126T>C , CM000664.2:g.177538126T>C	GRCh38
NC_000002.11:g.178402854T>C , CM000664.1:g.178402854T>C	GRCh37
NC_000002.10:g.178111100T>C	NCBI36
NG_008968.1:g.150384T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003659.4:c.1908T>C MANE Select	NP_003650.1:p.Phe636=
ENST00000264167.11:c.1908T>C MANE Select	ENSP00000264167.4:p.Phe636=
NM_003659.3:c.1908T>C	NP_003650.1:p.Phe636=
ENST00000264167.8:c.1908T>C	ENSP00000264167.4:p.Phe636=
ENST00000409888.1:c.501T>C	ENSP00000386688.1:p.Phe167=
ENST00000637633.2:c.1855+14321T>C	ENSP00000490844.2:n.1855+14321T>C
ENST00000642466.2:c.1856-13237T>C	ENSP00000494433.2:n.1856-13237T>C
ENST00000679421.1:n.3137T>C
ENST00000679459.1:c.1855+14321T>C	ENSP00000506137.1:n.1855+14321T>C
ENST00000679478.1:c.1638T>C	ENSP00000506484.1:p.Phe546=
ENST00000679994.1:c.1638T>C	ENSP00000504957.1:p.Phe546=
ENST00000680028.1:n.3272T>C
ENST00000680155.1:c.1638T>C	ENSP00000505333.1:p.Phe546=
ENST00000680390.1:n.943T>C
ENST00000680893.1:c.*1156T>C	ENSP00000505929.1:n.*1156T>C
ENST00000681028.1:c.*335T>C	ENSP00000506323.1:n.*335T>C
ENST00000681032.1:c.*1286T>C	ENSP00000505205.1:n.*1286T>C
ENST00000681300.1:n.863T>C
ENST00000681449.1:c.1638T>C	ENSP00000505342.1:p.Phe546=
ENST00000681565.1:c.*1041T>C	ENSP00000505620.1:n.*1041T>C
ENST00000681752.1:c.*1678T>C	ENSP00000504994.1:n.*1678T>C
ENST00000681891.1:n.5543T>C
XM_011512041.1:c.1638T>C	XP_011510343.1:p.Phe546=
XM_011512041.2:c.1638T>C	XP_011510343.1:p.Phe546=
XM_011512042.1:c.1638T>C	XP_011510344.1:p.Phe546=
XM_011512043.1:c.1173T>C	XP_011510345.1:p.Phe391=
XM_011512043.2:c.1173T>C	XP_011510345.1:p.Phe391=
XR_001739007.2:n.1816T>C