Canonical Allele Identifier: CA497687378

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328921T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425601T>G , CM000679.2:g.6425601T>G	GRCh38
NC_000017.10:g.6328921T>G , CM000679.1:g.6328921T>G	GRCh37
NC_000017.9:g.6269645T>G	NCBI36
NG_008474.1:g.14599A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1014A>C MANE Select	ENSP00000370521.3:p.Pro338=
ENST00000250087.9:c.825A>C	ENSP00000250087.5:p.Pro275=
ENST00000381128.2:c.*886A>C	ENSP00000370520.2:n.*886A>C
ENST00000381129.7:c.1014A>C	ENSP00000370521.3:p.Pro338=
ENST00000570466.5:c.948A>C	ENSP00000461287.1:p.Pro316=
ENST00000570584.5:c.251+8318A>C
ENST00000574506.5:c.978A>C	ENSP00000458456.1:p.Pro326=
ENST00000575265.5:c.*985A>C	ENSP00000459673.1:n.*985A>C
ENST00000576307.5:c.834A>C	ENSP00000459522.1:p.Pro278=
ENST00000576776.5:c.942A>C	ENSP00000460827.1:p.Pro314=
ENST00000621374.4:c.*32A>C	ENSP00000481337.1:n.*32A>C
NM_001033054.2:c.825A>C	NP_001028226.1:p.Pro275=
NM_001033055.2:c.834A>C	NP_001028227.1:p.Pro278=
NM_001285399.2:c.978A>C	NP_001272328.1:p.Pro326=
NM_001285400.2:c.948A>C	NP_001272329.1:p.Pro316=
NM_001285401.2:c.942A>C	NP_001272330.1:p.Pro314=
NM_001285402.1:c.897A>C	NP_001272331.1:p.Pro299=
NM_014336.4:c.1014A>C	NP_055151.3:p.Pro338=
NM_001033054.3:c.825A>C	NP_001028226.1:p.Pro275=
NM_001033055.3:c.834A>C	NP_001028227.1:p.Pro278=
NM_001285399.3:c.978A>C	NP_001272328.1:p.Pro326=
NM_001285400.3:c.948A>C	NP_001272329.1:p.Pro316=
NM_001285401.3:c.942A>C	NP_001272330.1:p.Pro314=
NM_001285402.2:c.897A>C	NP_001272331.1:p.Pro299=
NM_001285403.3:c.*985A>C	NP_001272332.1:n.*985A>C
NM_014336.5:c.1014A>C MANE Select	NP_055151.3:p.Pro338=
NM_001285403.4:c.*985A>C	NP_001272332.1:n.*985A>C