Canonical Allele Identifier: CA381547014

Gene: AIP

Linked Data

• gnomAD v4: 11-67487118-C-T
• MyVariant Identifiers: chr11:g.67254589C>T (hg19) ; chr11:g.67487118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487118C>T , CM000673.2:g.67487118C>T	GRCh38
NC_000011.9:g.67254589C>T , CM000673.1:g.67254589C>T	GRCh37
NC_000011.8:g.67011165C>T	NCBI36
NG_008969.1:g.9085C>T , LRG_460:g.9085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.189C>T
ENST00000528641.7:c.212C>T	ENSP00000434982.3:p.Pro71Leu
ENST00000529797.2:n.142C>T
ENST00000682324.1:c.212C>T	ENSP00000508017.1:p.Pro71Leu
ENST00000682659.1:c.100-2920C>T	ENSP00000507351.1:n.100-2920C>T
ENST00000682699.1:c.212C>T	ENSP00000507935.1:p.Pro71Leu
ENST00000683237.1:c.212C>T	ENSP00000507343.1:p.Pro71Leu
ENST00000683856.1:c.35C>T	ENSP00000507979.1:p.Pro12Leu
ENST00000684006.1:c.212C>T	ENSP00000507269.1:p.Pro71Leu
ENST00000684657.1:c.100-2149C>T	ENSP00000507961.1:n.100-2149C>T
ENST00000279146.8:c.212C>T MANE Select	ENSP00000279146.3:p.Pro71Leu
ENST00000279146.7:c.212C>T	ENSP00000279146.3:p.Pro71Leu
ENST00000528641.6:c.212C>T	ENSP00000434982.2:p.Pro71Leu
ENST00000529797.1:n.322C>T
NM_001302959.1:c.35C>T	NP_001289888.1:p.Pro12Leu
NM_001302960.1:c.212C>T	NP_001289889.1:p.Pro71Leu
NM_003977.3:c.212C>T	NP_003968.3:p.Pro71Leu
XM_024448761.1:c.212C>T	XP_024304529.1:p.Pro71Leu
NM_003977.4:c.212C>T MANE Select	NP_003968.3:p.Pro71Leu
NM_001302960.2:c.212C>T	NP_001289889.1:p.Pro71Leu
NM_001302959.2:c.35C>T	NP_001289888.1:p.Pro12Leu