Canonical Allele Identifier: CA85062058

Gene: PXYLP1

Linked Data

• dbSNP Id: rs16851254
• gnomAD v2: 3-140979411-A-G
• gnomAD v3: 3-141260569-A-G
• gnomAD v4: 3-141260569-A-G
• MyVariant Identifiers: chr3:g.140979411A>G (hg19) ; chr3:g.141260569A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141260569A>G , CM000665.2:g.141260569A>G	GRCh38
NC_000003.11:g.140979411A>G , CM000665.1:g.140979411A>G	GRCh37
NC_000003.10:g.142462101A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286353.9:c.79+315A>G MANE Select	ENSP00000286353.4:n.79+315A>G
ENST00000636601.1:c.79+315A>G	ENSP00000490861.1:n.79+315A>G
ENST00000637579.1:c.79+315A>G	ENSP00000490114.1:n.79+315A>G
ENST00000637751.1:c.79+315A>G	ENSP00000490743.1:n.79+315A>G
ENST00000286353.8:c.79+315A>G	ENSP00000286353.4:n.79+315A>G
ENST00000393010.6:c.79+315A>G	ENSP00000376733.2:n.79+315A>G
ENST00000502783.5:c.-134+315A>G	ENSP00000422558.1:n.-134+315A>G
ENST00000505013.5:c.79+315A>G	ENSP00000421271.1:n.79+315A>G
ENST00000513007.1:n.199+315A>G
ENST00000513528.5:c.79+315A>G	ENSP00000426348.1:n.79+315A>G
ENST00000514680.5:c.79+315A>G	ENSP00000426956.1:n.79+315A>G
ENST00000514880.5:c.79+315A>G	ENSP00000425264.1:n.79+315A>G
NM_001037172.2:c.79+315A>G	NP_001032249.1:n.79+315A>G
NM_001282728.1:c.-134+315A>G	NP_001269657.1:n.-134+315A>G
NM_152282.4:c.79+315A>G	NP_689495.1:n.79+315A>G
XM_011513314.1:c.-294+315A>G	XP_011511616.1:n.-294+315A>G
XM_011513315.1:c.-113+315A>G	XP_011511617.1:n.-113+315A>G
XM_011513316.1:c.-318+315A>G	XP_011511618.1:n.-318+315A>G
XM_005247903.4:c.-454+315A>G	XP_005247960.1:n.-454+315A>G
XM_017007511.1:c.-318+315A>G	XP_016863000.1:n.-318+315A>G
NM_001037172.3:c.79+315A>G MANE Select	NP_001032249.1:n.79+315A>G
NM_001282728.2:c.-134+315A>G	NP_001269657.1:n.-134+315A>G
NM_152282.5:c.79+315A>G	NP_689495.1:n.79+315A>G