Canonical Allele Identifier: CA475509272

Gene: AIP

Linked Data

• ClinVar Variation Id: 1751932
• ClinVar RCV Id: RCV002353639
• MyVariant Identifiers: chr11:g.67257655C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490184C>T , CM000673.2:g.67490184C>T	GRCh38
NC_000011.9:g.67257655C>T , CM000673.1:g.67257655C>T	GRCh37
NC_000011.8:g.67014231C>T	NCBI36
NG_008969.1:g.12151C>T , LRG_460:g.12151C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.592C>T
ENST00000528641.7:c.426C>T	ENSP00000434982.3:p.Ala142=
ENST00000529797.2:n.1127C>T
ENST00000682324.1:c.468+729C>T	ENSP00000508017.1:n.468+729C>T
ENST00000682659.1:c.246C>T	ENSP00000507351.1:p.Ala82=
ENST00000682699.1:c.615C>T	ENSP00000507935.1:p.Ala205=
ENST00000683237.1:c.615C>T	ENSP00000507343.1:p.Ala205=
ENST00000683856.1:c.438C>T	ENSP00000507979.1:p.Ala146=
ENST00000684006.1:c.615C>T	ENSP00000507269.1:p.Ala205=
ENST00000684657.1:c.435C>T	ENSP00000507961.1:p.Ala145=
ENST00000279146.8:c.615C>T MANE Select	ENSP00000279146.3:p.Ala205=
ENST00000279146.7:c.615C>T	ENSP00000279146.3:p.Ala205=
ENST00000525341.1:c.267C>T	ENSP00000476993.1:p.Ala89=
ENST00000528641.6:c.426C>T	ENSP00000434982.2:p.Ala142=
NM_001302959.1:c.438C>T	NP_001289888.1:p.Ala146=
NM_001302960.1:c.615C>T	NP_001289889.1:p.Ala205=
NM_003977.3:c.615C>T	NP_003968.3:p.Ala205=
XM_024448761.1:c.615C>T	XP_024304529.1:p.Ala205=
NM_003977.4:c.615C>T MANE Select	NP_003968.3:p.Ala205=
NM_001302960.2:c.615C>T	NP_001289889.1:p.Ala205=
NM_001302959.2:c.438C>T	NP_001289888.1:p.Ala146=