Canonical Allele Identifier: CA599911413

Gene: AIP

Linked Data

• dbSNP Id: rs1200685726
• gnomAD v2: 11-67257114-T-C
• gnomAD v3: 11-67489643-T-C
• gnomAD v4: 11-67489643-T-C
• MyVariant Identifiers: chr11:g.67257114T>C (hg19) ; chr11:g.67489643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67489643T>C , CM000673.2:g.67489643T>C	GRCh38
NC_000011.9:g.67257114T>C , CM000673.1:g.67257114T>C	GRCh37
NC_000011.8:g.67013690T>C	NCBI36
NG_008969.1:g.11610T>C , LRG_460:g.11610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.445+188T>C
ENST00000528641.7:c.280-395T>C	ENSP00000434982.3:n.280-395T>C
ENST00000529797.2:n.586T>C
ENST00000682324.1:c.468+188T>C	ENSP00000508017.1:n.468+188T>C
ENST00000682659.1:c.100-395T>C	ENSP00000507351.1:n.100-395T>C
ENST00000682699.1:c.468+188T>C	ENSP00000507935.1:n.468+188T>C
ENST00000683237.1:c.468+188T>C	ENSP00000507343.1:n.468+188T>C
ENST00000683856.1:c.291+188T>C	ENSP00000507979.1:n.291+188T>C
ENST00000684006.1:c.468+188T>C	ENSP00000507269.1:n.468+188T>C
ENST00000684657.1:c.288+188T>C	ENSP00000507961.1:n.288+188T>C
ENST00000279146.8:c.468+188T>C MANE Select	ENSP00000279146.3:n.468+188T>C
ENST00000279146.7:c.468+188T>C	ENSP00000279146.3:n.468+188T>C
ENST00000525341.1:c.120+188T>C	ENSP00000476993.1:n.120+188T>C
ENST00000528641.6:c.280-395T>C	ENSP00000434982.2:n.280-395T>C
ENST00000529797.1:n.766T>C
NM_001302959.1:c.291+188T>C	NP_001289888.1:n.291+188T>C
NM_001302960.1:c.468+188T>C	NP_001289889.1:n.468+188T>C
NM_003977.3:c.468+188T>C	NP_003968.3:n.468+188T>C
XM_024448761.1:c.468+188T>C	XP_024304529.1:n.468+188T>C
NM_003977.4:c.468+188T>C MANE Select	NP_003968.3:n.468+188T>C
NM_001302960.2:c.468+188T>C	NP_001289889.1:n.468+188T>C
NM_001302959.2:c.291+188T>C	NP_001289888.1:n.291+188T>C