Canonical Allele Identifier: CA475392307

Gene: AIP

Linked Data

• ClinVar Variation Id: 1785709
• ClinVar RCV Id: RCV002424021
• gnomAD v4: 11-67487114-C-T
• MyVariant Identifiers: chr11:g.67254585C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487114C>T , CM000673.2:g.67487114C>T	GRCh38
NC_000011.9:g.67254585C>T , CM000673.1:g.67254585C>T	GRCh37
NC_000011.8:g.67011161C>T	NCBI36
NG_008969.1:g.9081C>T , LRG_460:g.9081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.185C>T
ENST00000528641.7:c.208C>T	ENSP00000434982.3:p.Leu70=
ENST00000529797.2:n.138C>T
ENST00000682324.1:c.208C>T	ENSP00000508017.1:p.Leu70=
ENST00000682659.1:c.100-2924C>T	ENSP00000507351.1:n.100-2924C>T
ENST00000682699.1:c.208C>T	ENSP00000507935.1:p.Leu70=
ENST00000683237.1:c.208C>T	ENSP00000507343.1:p.Leu70=
ENST00000683856.1:c.31C>T	ENSP00000507979.1:p.Leu11=
ENST00000684006.1:c.208C>T	ENSP00000507269.1:p.Leu70=
ENST00000684657.1:c.100-2153C>T	ENSP00000507961.1:n.100-2153C>T
ENST00000279146.8:c.208C>T MANE Select	ENSP00000279146.3:p.Leu70=
ENST00000279146.7:c.208C>T	ENSP00000279146.3:p.Leu70=
ENST00000528641.6:c.208C>T	ENSP00000434982.2:p.Leu70=
ENST00000529797.1:n.318C>T
NM_001302959.1:c.31C>T	NP_001289888.1:p.Leu11=
NM_001302960.1:c.208C>T	NP_001289889.1:p.Leu70=
NM_003977.3:c.208C>T	NP_003968.3:p.Leu70=
XM_024448761.1:c.208C>T	XP_024304529.1:p.Leu70=
NM_003977.4:c.208C>T MANE Select	NP_003968.3:p.Leu70=
NM_001302960.2:c.208C>T	NP_001289889.1:p.Leu70=
NM_001302959.2:c.31C>T	NP_001289888.1:p.Leu11=