Canonical Allele Identifier: CA397394213

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1307451
• ClinVar RCV Id: RCV001760869
• dbSNP Id: rs61757484
• gnomAD v2: 17-6328809-G-C
• gnomAD v3: 17-6425489-G-C
• gnomAD v4: 17-6425489-G-C
• MyVariant Identifiers: chr17:g.6328809G>C (hg19) ; chr17:g.6425489G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1126C>G MANE Select	ENSP00000370521.3:p.Pro376Ala
ENST00000250087.9:c.937C>G	ENSP00000250087.5:p.Pro313Ala
ENST00000381128.2:c.*998C>G	ENSP00000370520.2:n.*998C>G
ENST00000381129.7:c.1126C>G	ENSP00000370521.3:p.Pro376Ala
ENST00000570466.5:c.1060C>G	ENSP00000461287.1:p.Pro354Ala
ENST00000570584.5:c.251+8430C>G
ENST00000574506.5:c.1090C>G	ENSP00000458456.1:p.Pro364Ala
ENST00000575265.5:c.*1097C>G	ENSP00000459673.1:n.*1097C>G
ENST00000576307.5:c.946C>G	ENSP00000459522.1:p.Pro316Ala
ENST00000576776.5:c.1054C>G	ENSP00000460827.1:p.Pro352Ala
ENST00000621374.4:c.*144C>G	ENSP00000481337.1:n.*144C>G
NM_001033054.2:c.937C>G	NP_001028226.1:p.Pro313Ala
NM_001033055.2:c.946C>G	NP_001028227.1:p.Pro316Ala
NM_001285399.2:c.1090C>G	NP_001272328.1:p.Pro364Ala
NM_001285400.2:c.1060C>G	NP_001272329.1:p.Pro354Ala
NM_001285401.2:c.1054C>G	NP_001272330.1:p.Pro352Ala
NM_001285402.1:c.1009C>G	NP_001272331.1:p.Pro337Ala
NM_014336.4:c.1126C>G	NP_055151.3:p.Pro376Ala
NM_001033054.3:c.937C>G	NP_001028226.1:p.Pro313Ala
NM_001033055.3:c.946C>G	NP_001028227.1:p.Pro316Ala
NM_001285399.3:c.1090C>G	NP_001272328.1:p.Pro364Ala
NM_001285400.3:c.1060C>G	NP_001272329.1:p.Pro354Ala
NM_001285401.3:c.1054C>G	NP_001272330.1:p.Pro352Ala
NM_001285402.2:c.1009C>G	NP_001272331.1:p.Pro337Ala
NM_001285403.3:c.*1097C>G	NP_001272332.1:n.*1097C>G
NM_014336.5:c.1126C>G MANE Select	NP_055151.3:p.Pro376Ala
NM_001285403.4:c.*1097C>G	NP_001272332.1:n.*1097C>G