Canonical Allele Identifier: CA381555529

Gene: AIP

Linked Data

• gnomAD v4: 11-67490985-T-C
• MyVariant Identifiers: chr11:g.67258456T>C (hg19) ; chr11:g.67490985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490985T>C , CM000673.2:g.67490985T>C	GRCh38
NC_000011.9:g.67258456T>C , CM000673.1:g.67258456T>C	GRCh37
NC_000011.8:g.67015032T>C	NCBI36
NG_008969.1:g.12952T>C , LRG_460:g.12952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1292T>C
ENST00000528641.7:c.796T>C	ENSP00000434982.3:p.Ser266Pro
ENST00000529797.2:n.1827T>C
ENST00000682324.1:c.469-12T>C	ENSP00000508017.1:n.469-12T>C
ENST00000682659.1:c.616T>C	ENSP00000507351.1:p.Ser206Pro
ENST00000683237.1:c.*125T>C	ENSP00000507343.1:n.*125T>C
ENST00000683856.1:c.808T>C	ENSP00000507979.1:p.Ser270Pro
ENST00000684006.1:c.*125T>C	ENSP00000507269.1:n.*125T>C
ENST00000684657.1:c.805T>C	ENSP00000507961.1:p.Ser269Pro
ENST00000279146.8:c.985T>C MANE Select	ENSP00000279146.3:p.Ser329Pro
ENST00000279146.7:c.985T>C	ENSP00000279146.3:p.Ser329Pro
NM_001302959.1:c.808T>C	NP_001289888.1:p.Ser270Pro
NM_001302960.1:c.*125T>C	NP_001289889.1:n.*125T>C
NM_003977.3:c.985T>C	NP_003968.3:p.Ser329Pro
XM_024448761.1:c.985T>C	XP_024304529.1:p.Ser329Pro
NM_003977.4:c.985T>C MANE Select	NP_003968.3:p.Ser329Pro
NM_001302960.2:c.*125T>C	NP_001289889.1:n.*125T>C
NM_001302959.2:c.808T>C	NP_001289888.1:p.Ser270Pro