Canonical Allele Identifier: CA381551519

Gene: AIP

Linked Data

• gnomAD v4: 11-67490339-G-T
• MyVariant Identifiers: chr11:g.67257810G>T (hg19) ; chr11:g.67490339G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490339G>T , CM000673.2:g.67490339G>T	GRCh38
NC_000011.9:g.67257810G>T , CM000673.1:g.67257810G>T	GRCh37
NC_000011.8:g.67014386G>T	NCBI36
NG_008969.1:g.12306G>T , LRG_460:g.12306G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.646G>T
ENST00000528641.7:c.480G>T	ENSP00000434982.3:p.Trp160Cys
ENST00000529797.2:n.1181G>T
ENST00000682324.1:c.469-658G>T	ENSP00000508017.1:n.469-658G>T
ENST00000682659.1:c.300G>T	ENSP00000507351.1:p.Trp100Cys
ENST00000682699.1:c.669G>T	ENSP00000507935.1:p.Trp223Cys
ENST00000683237.1:c.669G>T	ENSP00000507343.1:p.Trp223Cys
ENST00000683856.1:c.492G>T	ENSP00000507979.1:p.Trp164Cys
ENST00000684006.1:c.669G>T	ENSP00000507269.1:p.Trp223Cys
ENST00000684657.1:c.489G>T	ENSP00000507961.1:p.Trp163Cys
ENST00000279146.8:c.669G>T MANE Select	ENSP00000279146.3:p.Trp223Cys
ENST00000279146.7:c.669G>T	ENSP00000279146.3:p.Trp223Cys
ENST00000525341.1:c.321G>T	ENSP00000476993.1:p.Trp107Cys
ENST00000528641.6:c.480G>T	ENSP00000434982.2:p.Trp160Cys
NM_001302959.1:c.492G>T	NP_001289888.1:p.Trp164Cys
NM_001302960.1:c.669G>T	NP_001289889.1:p.Trp223Cys
NM_003977.3:c.669G>T	NP_003968.3:p.Trp223Cys
XM_024448761.1:c.669G>T	XP_024304529.1:p.Trp223Cys
NM_003977.4:c.669G>T MANE Select	NP_003968.3:p.Trp223Cys
NM_001302960.2:c.669G>T	NP_001289889.1:p.Trp223Cys
NM_001302959.2:c.492G>T	NP_001289888.1:p.Trp164Cys