Canonical Allele Identifier: CA381546866

Gene: AIP

Linked Data

• ClinVar Variation Id: 2447162
• ClinVar RCV Id: RCV003165086
• gnomAD v4: 11-67487094-T-C
• MyVariant Identifiers: chr11:g.67254565T>C (hg19) ; chr11:g.67487094T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487094T>C , CM000673.2:g.67487094T>C	GRCh38
NC_000011.9:g.67254565T>C , CM000673.1:g.67254565T>C	GRCh37
NC_000011.8:g.67011141T>C	NCBI36
NG_008969.1:g.9061T>C , LRG_460:g.9061T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.165T>C
ENST00000528641.7:c.188T>C	ENSP00000434982.3:p.Ile63Thr
ENST00000529797.2:n.118T>C
ENST00000682324.1:c.188T>C	ENSP00000508017.1:p.Ile63Thr
ENST00000682659.1:c.100-2944T>C	ENSP00000507351.1:n.100-2944T>C
ENST00000682699.1:c.188T>C	ENSP00000507935.1:p.Ile63Thr
ENST00000683237.1:c.188T>C	ENSP00000507343.1:p.Ile63Thr
ENST00000683856.1:c.11T>C	ENSP00000507979.1:p.Ile4Thr
ENST00000684006.1:c.188T>C	ENSP00000507269.1:p.Ile63Thr
ENST00000684657.1:c.100-2173T>C	ENSP00000507961.1:n.100-2173T>C
ENST00000279146.8:c.188T>C MANE Select	ENSP00000279146.3:p.Ile63Thr
ENST00000279146.7:c.188T>C	ENSP00000279146.3:p.Ile63Thr
ENST00000528641.6:c.188T>C	ENSP00000434982.2:p.Ile63Thr
ENST00000529797.1:n.298T>C
NM_001302959.1:c.11T>C	NP_001289888.1:p.Ile4Thr
NM_001302960.1:c.188T>C	NP_001289889.1:p.Ile63Thr
NM_003977.3:c.188T>C	NP_003968.3:p.Ile63Thr
XM_024448761.1:c.188T>C	XP_024304529.1:p.Ile63Thr
NM_003977.4:c.188T>C MANE Select	NP_003968.3:p.Ile63Thr
NM_001302960.2:c.188T>C	NP_001289889.1:p.Ile63Thr
NM_001302959.2:c.11T>C	NP_001289888.1:p.Ile4Thr