Canonical Allele Identifier: CA2614618817

Gene: AIP

Linked Data

• ClinVar Variation Id: 2966594
• ClinVar RCV Id: RCV003828728
• gnomAD v4: 11-67483265-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67483265T>C , CM000673.2:g.67483265T>C	GRCh38
NC_000011.9:g.67250736T>C , CM000673.1:g.67250736T>C	GRCh37
NC_000011.8:g.67007312T>C	NCBI36
NG_008969.1:g.5232T>C , LRG_460:g.5232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.76+8T>C
ENST00000528641.7:c.99+8T>C	ENSP00000434982.3:n.99+8T>C
ENST00000529797.2:n.29+8T>C
ENST00000682324.1:c.99+8T>C	ENSP00000508017.1:n.99+8T>C
ENST00000682659.1:c.99+8T>C	ENSP00000507351.1:n.99+8T>C
ENST00000682699.1:c.99+8T>C	ENSP00000507935.1:n.99+8T>C
ENST00000683237.1:c.99+8T>C	ENSP00000507343.1:n.99+8T>C
ENST00000684006.1:c.99+8T>C	ENSP00000507269.1:n.99+8T>C
ENST00000684657.1:c.99+8T>C	ENSP00000507961.1:n.99+8T>C
ENST00000279146.8:c.99+8T>C MANE Select	ENSP00000279146.3:n.99+8T>C
ENST00000279146.7:c.99+8T>C	ENSP00000279146.3:n.99+8T>C
ENST00000528641.6:c.99+8T>C	ENSP00000434982.2:n.99+8T>C
ENST00000529797.1:n.209+8T>C
NM_001302960.1:c.99+8T>C	NP_001289889.1:n.99+8T>C
NM_003977.3:c.99+8T>C	NP_003968.3:n.99+8T>C
XM_024448761.1:c.99+8T>C	XP_024304529.1:n.99+8T>C
NM_003977.4:c.99+8T>C MANE Select	NP_003968.3:n.99+8T>C
NM_001302960.2:c.99+8T>C	NP_001289889.1:n.99+8T>C