Canonical Allele Identifier: CA381554690

Gene: AIP

Linked Data

• MyVariant Identifiers: chr11:g.67258306T>C (hg19) ; chr11:g.67490835T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490835T>C , CM000673.2:g.67490835T>C	GRCh38
NC_000011.9:g.67258306T>C , CM000673.1:g.67258306T>C	GRCh37
NC_000011.8:g.67014882T>C	NCBI36
NG_008969.1:g.12802T>C , LRG_460:g.12802T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1142T>C
ENST00000528641.7:c.646T>C	ENSP00000434982.3:p.Trp216Arg
ENST00000529797.2:n.1677T>C
ENST00000682324.1:c.469-162T>C	ENSP00000508017.1:n.469-162T>C
ENST00000682659.1:c.466T>C	ENSP00000507351.1:p.Trp156Arg
ENST00000682699.1:c.835T>C	ENSP00000507935.1:p.Trp279Arg
ENST00000683237.1:c.827T>C	ENSP00000507343.1:p.Val276Ala
ENST00000683856.1:c.658T>C	ENSP00000507979.1:p.Trp220Arg
ENST00000684006.1:c.824T>C	ENSP00000507269.1:p.Val275Ala
ENST00000684657.1:c.655T>C	ENSP00000507961.1:p.Trp219Arg
ENST00000279146.8:c.835T>C MANE Select	ENSP00000279146.3:p.Trp279Arg
ENST00000279146.7:c.835T>C	ENSP00000279146.3:p.Trp279Arg
ENST00000528641.6:c.646T>C	ENSP00000434982.2:p.Trp216Arg
NM_001302959.1:c.658T>C	NP_001289888.1:p.Trp220Arg
NM_001302960.1:c.827T>C	NP_001289889.1:p.Val276Ala
NM_003977.3:c.835T>C	NP_003968.3:p.Trp279Arg
XM_024448761.1:c.835T>C	XP_024304529.1:p.Trp279Arg
NM_003977.4:c.835T>C MANE Select	NP_003968.3:p.Trp279Arg
NM_001302960.2:c.827T>C	NP_001289889.1:p.Val276Ala
NM_001302959.2:c.658T>C	NP_001289888.1:p.Trp220Arg