Canonical Allele Identifier: CA2644364

Gene: PXYLP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141292351G>A , CM000665.2:g.141292351G>A	GRCh38
NC_000003.11:g.141011193G>A , CM000665.1:g.141011193G>A	GRCh37
NC_000003.10:g.142493883G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001037172.3:c.589G>A MANE Select	NP_001032249.1:p.Ala197Thr
ENST00000286353.9:c.589G>A MANE Select	ENSP00000286353.4:p.Ala197Thr
NM_001037172.2:c.589G>A	NP_001032249.1:p.Ala197Thr
NM_001282728.1:c.475G>A	NP_001269657.1:p.Ala159Thr
NM_001282728.2:c.475G>A	NP_001269657.1:p.Ala159Thr
NM_152282.4:c.589G>A	NP_689495.1:p.Ala197Thr
NM_152282.5:c.589G>A	NP_689495.1:p.Ala197Thr
ENST00000286353.8:c.589G>A	ENSP00000286353.4:p.Ala197Thr
ENST00000393010.6:c.589G>A	ENSP00000376733.2:p.Ala197Thr
ENST00000502783.5:c.475G>A	ENSP00000422558.1:p.Ala159Thr
ENST00000504264.5:c.538G>A	ENSP00000426877.1:p.Ala180Thr
ENST00000508812.1:c.562G>A	ENSP00000422901.1:p.Ala188Thr
ENST00000514880.5:c.*222G>A	ENSP00000425264.1:n.*222G>A
ENST00000636601.1:c.505+4898G>A	ENSP00000490861.1:n.505+4898G>A
ENST00000637579.1:c.505+4898G>A	ENSP00000490114.1:n.505+4898G>A
ENST00000637751.1:c.505+4898G>A	ENSP00000490743.1:n.505+4898G>A
XM_005247903.2:c.538G>A	XP_005247960.1:p.Ala180Thr
XM_005247903.4:c.538G>A	XP_005247960.1:p.Ala180Thr
XM_011513314.1:c.562G>A	XP_011511616.1:p.Ala188Thr
XM_011513315.1:c.562G>A	XP_011511617.1:p.Ala188Thr
XM_011513316.1:c.475G>A	XP_011511618.1:p.Ala159Thr
XM_017007511.1:c.475G>A	XP_016863000.1:p.Ala159Thr
XM_024453830.1:c.562G>A	XP_024309598.1:p.Ala188Thr