Canonical Allele Identifier: CA475509685

Gene: AIP

Linked Data

• MyVariant Identifiers: chr11:g.67258398G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490927G>C , CM000673.2:g.67490927G>C	GRCh38
NC_000011.9:g.67258398G>C , CM000673.1:g.67258398G>C	GRCh37
NC_000011.8:g.67014974G>C	NCBI36
NG_008969.1:g.12894G>C , LRG_460:g.12894G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1234G>C
ENST00000528641.7:c.738G>C	ENSP00000434982.3:p.Leu246=
ENST00000529797.2:n.1769G>C
ENST00000682324.1:c.469-70G>C	ENSP00000508017.1:n.469-70G>C
ENST00000682659.1:c.558G>C	ENSP00000507351.1:p.Leu186=
ENST00000682699.1:c.927G>C	ENSP00000507935.1:p.Leu309=
ENST00000683237.1:c.*67G>C	ENSP00000507343.1:n.*67G>C
ENST00000683856.1:c.750G>C	ENSP00000507979.1:p.Leu250=
ENST00000684006.1:c.*67G>C	ENSP00000507269.1:n.*67G>C
ENST00000684657.1:c.747G>C	ENSP00000507961.1:p.Leu249=
ENST00000279146.8:c.927G>C MANE Select	ENSP00000279146.3:p.Leu309=
ENST00000279146.7:c.927G>C	ENSP00000279146.3:p.Leu309=
NM_001302959.1:c.750G>C	NP_001289888.1:p.Leu250=
NM_001302960.1:c.*67G>C	NP_001289889.1:n.*67G>C
NM_003977.3:c.927G>C	NP_003968.3:p.Leu309=
XM_024448761.1:c.927G>C	XP_024304529.1:p.Leu309=
NM_003977.4:c.927G>C MANE Select	NP_003968.3:p.Leu309=
NM_001302960.2:c.*67G>C	NP_001289889.1:n.*67G>C
NM_001302959.2:c.750G>C	NP_001289888.1:p.Leu250=