Canonical Allele Identifier: CA224165076

Gene: AIP

Linked Data

• dbSNP Id: rs182746617
• gnomAD v3: 11-67490181-T-C
• gnomAD v4: 11-67490181-T-C
• MyVariant Identifiers: chr11:g.67257652T>C (hg19) ; chr11:g.67490181T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490181T>C , CM000673.2:g.67490181T>C	GRCh38
NC_000011.9:g.67257652T>C , CM000673.1:g.67257652T>C	GRCh37
NC_000011.8:g.67014228T>C	NCBI36
NG_008969.1:g.12148T>C , LRG_460:g.12148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.589T>C
ENST00000528641.7:c.423T>C	ENSP00000434982.3:p.Asp141=
ENST00000529797.2:n.1124T>C
ENST00000682324.1:c.468+726T>C	ENSP00000508017.1:n.468+726T>C
ENST00000682659.1:c.243T>C	ENSP00000507351.1:p.Asp81=
ENST00000682699.1:c.612T>C	ENSP00000507935.1:p.Asp204=
ENST00000683237.1:c.612T>C	ENSP00000507343.1:p.Asp204=
ENST00000683856.1:c.435T>C	ENSP00000507979.1:p.Asp145=
ENST00000684006.1:c.612T>C	ENSP00000507269.1:p.Asp204=
ENST00000684657.1:c.432T>C	ENSP00000507961.1:p.Asp144=
ENST00000279146.8:c.612T>C MANE Select	ENSP00000279146.3:p.Asp204=
ENST00000279146.7:c.612T>C	ENSP00000279146.3:p.Asp204=
ENST00000525341.1:c.264T>C	ENSP00000476993.1:p.Asp88=
ENST00000528641.6:c.423T>C	ENSP00000434982.2:p.Asp141=
NM_001302959.1:c.435T>C	NP_001289888.1:p.Asp145=
NM_001302960.1:c.612T>C	NP_001289889.1:p.Asp204=
NM_003977.3:c.612T>C	NP_003968.3:p.Asp204=
XM_024448761.1:c.612T>C	XP_024304529.1:p.Asp204=
NM_003977.4:c.612T>C MANE Select	NP_003968.3:p.Asp204=
NM_001302960.2:c.612T>C	NP_001289889.1:p.Asp204=
NM_001302959.2:c.435T>C	NP_001289888.1:p.Asp145=