Canonical Allele Identifier: CA381554362

Gene: AIP

Linked Data

• ClinVar Variation Id: 2452492
• ClinVar RCV Id: RCV003172586
• dbSNP Id: rs1865892903
• MyVariant Identifiers: chr11:g.67258273T>C (hg19) ; chr11:g.67490802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490802T>C , CM000673.2:g.67490802T>C	GRCh38
NC_000011.9:g.67258273T>C , CM000673.1:g.67258273T>C	GRCh37
NC_000011.8:g.67014849T>C	NCBI36
NG_008969.1:g.12769T>C , LRG_460:g.12769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1109T>C
ENST00000528641.7:c.613T>C	ENSP00000434982.3:p.Tyr205His
ENST00000529797.2:n.1644T>C
ENST00000682324.1:c.469-195T>C	ENSP00000508017.1:n.469-195T>C
ENST00000682659.1:c.433T>C	ENSP00000507351.1:p.Tyr145His
ENST00000682699.1:c.802T>C	ENSP00000507935.1:p.Tyr268His
ENST00000683237.1:c.794T>C	ENSP00000507343.1:p.Leu265Pro
ENST00000683856.1:c.625T>C	ENSP00000507979.1:p.Tyr209His
ENST00000684006.1:c.791T>C	ENSP00000507269.1:p.Leu264Pro
ENST00000684657.1:c.622T>C	ENSP00000507961.1:p.Tyr208His
ENST00000279146.8:c.802T>C MANE Select	ENSP00000279146.3:p.Tyr268His
ENST00000279146.7:c.802T>C	ENSP00000279146.3:p.Tyr268His
ENST00000528641.6:c.613T>C	ENSP00000434982.2:p.Tyr205His
NM_001302959.1:c.625T>C	NP_001289888.1:p.Tyr209His
NM_001302960.1:c.794T>C	NP_001289889.1:p.Leu265Pro
NM_003977.3:c.802T>C	NP_003968.3:p.Tyr268His
XM_024448761.1:c.802T>C	XP_024304529.1:p.Tyr268His
NM_003977.4:c.802T>C MANE Select	NP_003968.3:p.Tyr268His
NM_001302960.2:c.794T>C	NP_001289889.1:p.Leu265Pro
NM_001302959.2:c.625T>C	NP_001289888.1:p.Tyr209His