Canonical Allele Identifier: CA381550457

Gene: AIP

Linked Data

• gnomAD v4: 11-67490069-C-T
• MyVariant Identifiers: chr11:g.67257540C>T (hg19) ; chr11:g.67490069C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490069C>T , CM000673.2:g.67490069C>T	GRCh38
NC_000011.9:g.67257540C>T , CM000673.1:g.67257540C>T	GRCh37
NC_000011.8:g.67014116C>T	NCBI36
NG_008969.1:g.12036C>T , LRG_460:g.12036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.477C>T
ENST00000528641.7:c.311C>T	ENSP00000434982.3:p.Pro104Leu
ENST00000529797.2:n.1012C>T
ENST00000682324.1:c.468+614C>T	ENSP00000508017.1:n.468+614C>T
ENST00000682659.1:c.131C>T	ENSP00000507351.1:p.Pro44Leu
ENST00000682699.1:c.500C>T	ENSP00000507935.1:p.Pro167Leu
ENST00000683237.1:c.500C>T	ENSP00000507343.1:p.Pro167Leu
ENST00000683856.1:c.323C>T	ENSP00000507979.1:p.Pro108Leu
ENST00000684006.1:c.500C>T	ENSP00000507269.1:p.Pro167Leu
ENST00000684657.1:c.320C>T	ENSP00000507961.1:p.Pro107Leu
ENST00000279146.8:c.500C>T MANE Select	ENSP00000279146.3:p.Pro167Leu
ENST00000279146.7:c.500C>T	ENSP00000279146.3:p.Pro167Leu
ENST00000525341.1:c.152C>T	ENSP00000476993.1:p.Pro51Leu
ENST00000528641.6:c.311C>T	ENSP00000434982.2:p.Pro104Leu
NM_001302959.1:c.323C>T	NP_001289888.1:p.Pro108Leu
NM_001302960.1:c.500C>T	NP_001289889.1:p.Pro167Leu
NM_003977.3:c.500C>T	NP_003968.3:p.Pro167Leu
XM_024448761.1:c.500C>T	XP_024304529.1:p.Pro167Leu
NM_003977.4:c.500C>T MANE Select	NP_003968.3:p.Pro167Leu
NM_001302960.2:c.500C>T	NP_001289889.1:p.Pro167Leu
NM_001302959.2:c.323C>T	NP_001289888.1:p.Pro108Leu