Canonical Allele Identifier: CA203312

Gene: AIPL1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425489G>A , CM000679.2:g.6425489G>A	GRCh38
NC_000017.10:g.6328809G>A , CM000679.1:g.6328809G>A	GRCh37
NC_000017.9:g.6269533G>A	NCBI36
NG_008474.1:g.14711C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1126C>T MANE Select	ENSP00000370521.3:p.Pro376Ser
ENST00000250087.9:c.937C>T	ENSP00000250087.5:p.Pro313Ser
ENST00000381128.2:c.*998C>T	ENSP00000370520.2:n.*998C>T
ENST00000381129.7:c.1126C>T	ENSP00000370521.3:p.Pro376Ser
ENST00000570466.5:c.1060C>T	ENSP00000461287.1:p.Pro354Ser
ENST00000570584.5:c.251+8430C>T
ENST00000574506.5:c.1090C>T	ENSP00000458456.1:p.Pro364Ser
ENST00000575265.5:c.*1097C>T	ENSP00000459673.1:n.*1097C>T
ENST00000576307.5:c.946C>T	ENSP00000459522.1:p.Pro316Ser
ENST00000576776.5:c.1054C>T	ENSP00000460827.1:p.Pro352Ser
ENST00000621374.4:c.*144C>T	ENSP00000481337.1:n.*144C>T
NM_001033054.2:c.937C>T	NP_001028226.1:p.Pro313Ser
NM_001033055.2:c.946C>T	NP_001028227.1:p.Pro316Ser
NM_001285399.2:c.1090C>T	NP_001272328.1:p.Pro364Ser
NM_001285400.2:c.1060C>T	NP_001272329.1:p.Pro354Ser
NM_001285401.2:c.1054C>T	NP_001272330.1:p.Pro352Ser
NM_001285402.1:c.1009C>T	NP_001272331.1:p.Pro337Ser
NM_014336.4:c.1126C>T	NP_055151.3:p.Pro376Ser
NM_001033054.3:c.937C>T	NP_001028226.1:p.Pro313Ser
NM_001033055.3:c.946C>T	NP_001028227.1:p.Pro316Ser
NM_001285399.3:c.1090C>T	NP_001272328.1:p.Pro364Ser
NM_001285400.3:c.1060C>T	NP_001272329.1:p.Pro354Ser
NM_001285401.3:c.1054C>T	NP_001272330.1:p.Pro352Ser
NM_001285402.2:c.1009C>T	NP_001272331.1:p.Pro337Ser
NM_001285403.3:c.*1097C>T	NP_001272332.1:n.*1097C>T
NM_014336.5:c.1126C>T MANE Select	NP_055151.3:p.Pro376Ser
NM_001285403.4:c.*1097C>T	NP_001272332.1:n.*1097C>T