Canonical Allele Identifier: CA381551141

Gene: AIP

Linked Data

• ClinVar Variation Id: 1910544
• ClinVar RCV Id: RCV002593347
• MyVariant Identifiers: chr11:g.67257647T>C (hg19) ; chr11:g.67490176T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490176T>C , CM000673.2:g.67490176T>C	GRCh38
NC_000011.9:g.67257647T>C , CM000673.1:g.67257647T>C	GRCh37
NC_000011.8:g.67014223T>C	NCBI36
NG_008969.1:g.12143T>C , LRG_460:g.12143T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.584T>C
ENST00000528641.7:c.418T>C	ENSP00000434982.3:p.Tyr140His
ENST00000529797.2:n.1119T>C
ENST00000682324.1:c.468+721T>C	ENSP00000508017.1:n.468+721T>C
ENST00000682659.1:c.238T>C	ENSP00000507351.1:p.Tyr80His
ENST00000682699.1:c.607T>C	ENSP00000507935.1:p.Tyr203His
ENST00000683237.1:c.607T>C	ENSP00000507343.1:p.Tyr203His
ENST00000683856.1:c.430T>C	ENSP00000507979.1:p.Tyr144His
ENST00000684006.1:c.607T>C	ENSP00000507269.1:p.Tyr203His
ENST00000684657.1:c.427T>C	ENSP00000507961.1:p.Tyr143His
ENST00000279146.8:c.607T>C MANE Select	ENSP00000279146.3:p.Tyr203His
ENST00000279146.7:c.607T>C	ENSP00000279146.3:p.Tyr203His
ENST00000525341.1:c.259T>C	ENSP00000476993.1:p.Tyr87His
ENST00000528641.6:c.418T>C	ENSP00000434982.2:p.Tyr140His
NM_001302959.1:c.430T>C	NP_001289888.1:p.Tyr144His
NM_001302960.1:c.607T>C	NP_001289889.1:p.Tyr203His
NM_003977.3:c.607T>C	NP_003968.3:p.Tyr203His
XM_024448761.1:c.607T>C	XP_024304529.1:p.Tyr203His
NM_003977.4:c.607T>C MANE Select	NP_003968.3:p.Tyr203His
NM_001302960.2:c.607T>C	NP_001289889.1:p.Tyr203His
NM_001302959.2:c.430T>C	NP_001289888.1:p.Tyr144His