Canonical Allele Identifier: CA2739270609

Gene: AIP

Linked Data

• ClinVar Variation Id: 2875460
• ClinVar RCV Id: RCV003707230

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487189T>C , CM000673.2:g.67487189T>C	GRCh38
NC_000011.9:g.67254660T>C , CM000673.1:g.67254660T>C	GRCh37
NC_000011.8:g.67011236T>C	NCBI36
NG_008969.1:g.9156T>C , LRG_460:g.9156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.256+4T>C
ENST00000528641.7:c.279+4T>C	ENSP00000434982.3:n.279+4T>C
ENST00000529797.2:n.209+4T>C
ENST00000682324.1:c.279+4T>C	ENSP00000508017.1:n.279+4T>C
ENST00000682659.1:c.100-2849T>C	ENSP00000507351.1:n.100-2849T>C
ENST00000682699.1:c.279+4T>C	ENSP00000507935.1:n.279+4T>C
ENST00000683237.1:c.279+4T>C	ENSP00000507343.1:n.279+4T>C
ENST00000683856.1:c.102+4T>C	ENSP00000507979.1:n.102+4T>C
ENST00000684006.1:c.279+4T>C	ENSP00000507269.1:n.279+4T>C
ENST00000684657.1:c.100-2078T>C	ENSP00000507961.1:n.100-2078T>C
ENST00000279146.8:c.279+4T>C MANE Select	ENSP00000279146.3:n.279+4T>C
ENST00000279146.7:c.279+4T>C	ENSP00000279146.3:n.279+4T>C
ENST00000528641.6:c.279+4T>C	ENSP00000434982.2:n.279+4T>C
ENST00000529797.1:n.389+4T>C
NM_001302959.1:c.102+4T>C	NP_001289888.1:n.102+4T>C
NM_001302960.1:c.279+4T>C	NP_001289889.1:n.279+4T>C
NM_003977.3:c.279+4T>C	NP_003968.3:n.279+4T>C
XM_024448761.1:c.279+4T>C	XP_024304529.1:n.279+4T>C
NM_003977.4:c.279+4T>C MANE Select	NP_003968.3:n.279+4T>C
NM_001302960.2:c.279+4T>C	NP_001289889.1:n.279+4T>C
NM_001302959.2:c.102+4T>C	NP_001289888.1:n.102+4T>C