Canonical Allele Identifier: CA381551945

Gene: AIP

Linked Data

• gnomAD v4: 11-67490451-T-C
• COSMIC: COSM1182327
• MyVariant Identifiers: chr11:g.67257922T>C (hg19) ; chr11:g.67490451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490451T>C , CM000673.2:g.67490451T>C	GRCh38
NC_000011.9:g.67257922T>C , CM000673.1:g.67257922T>C	GRCh37
NC_000011.8:g.67014498T>C	NCBI36
NG_008969.1:g.12418T>C , LRG_460:g.12418T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.758T>C
ENST00000528641.7:c.592T>C	ENSP00000434982.3:p.Tyr198His
ENST00000529797.2:n.1293T>C
ENST00000682324.1:c.469-546T>C	ENSP00000508017.1:n.469-546T>C
ENST00000682659.1:c.412T>C	ENSP00000507351.1:p.Tyr138His
ENST00000682699.1:c.781T>C	ENSP00000507935.1:p.Tyr261His
ENST00000683237.1:c.779+2T>C	ENSP00000507343.1:n.779+2T>C
ENST00000683856.1:c.604T>C	ENSP00000507979.1:p.Tyr202His
ENST00000684006.1:c.781T>C	ENSP00000507269.1:p.Tyr261His
ENST00000684657.1:c.601T>C	ENSP00000507961.1:p.Tyr201His
ENST00000279146.8:c.781T>C MANE Select	ENSP00000279146.3:p.Tyr261His
ENST00000279146.7:c.781T>C	ENSP00000279146.3:p.Tyr261His
ENST00000525341.1:c.433T>C	ENSP00000476993.1:p.Tyr145His
ENST00000528641.6:c.592T>C	ENSP00000434982.2:p.Tyr198His
NM_001302959.1:c.604T>C	NP_001289888.1:p.Tyr202His
NM_001302960.1:c.779+2T>C	NP_001289889.1:n.779+2T>C
NM_003977.3:c.781T>C	NP_003968.3:p.Tyr261His
XM_024448761.1:c.781T>C	XP_024304529.1:p.Tyr261His
NM_003977.4:c.781T>C MANE Select	NP_003968.3:p.Tyr261His
NM_001302960.2:c.779+2T>C	NP_001289889.1:n.779+2T>C
NM_001302959.2:c.604T>C	NP_001289888.1:p.Tyr202His