Canonical Allele Identifier: CA6140956

Gene: AIP

Linked Data

• dbSNP Id: rs756789596
• ExAC: 11:67258025 C / T
• gnomAD v2: 11-67258025-C-T
• gnomAD v4: 11-67490554-C-T
• MyVariant Identifiers: chr11:g.67258025C>T (hg19) ; chr11:g.67490554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490554C>T , CM000673.2:g.67490554C>T	GRCh38
NC_000011.9:g.67258025C>T , CM000673.1:g.67258025C>T	GRCh37
NC_000011.8:g.67014601C>T	NCBI36
NG_008969.1:g.12521C>T , LRG_460:g.12521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.861C>T
ENST00000528641.7:c.598+97C>T	ENSP00000434982.3:n.598+97C>T
ENST00000529797.2:n.1396C>T
ENST00000682324.1:c.469-443C>T	ENSP00000508017.1:n.469-443C>T
ENST00000682659.1:c.418+97C>T	ENSP00000507351.1:n.418+97C>T
ENST00000682699.1:c.787+97C>T	ENSP00000507935.1:n.787+97C>T
ENST00000683237.1:c.779+105C>T	ENSP00000507343.1:n.779+105C>T
ENST00000683856.1:c.610+97C>T	ENSP00000507979.1:n.610+97C>T
ENST00000684006.1:c.787+97C>T	ENSP00000507269.1:n.787+97C>T
ENST00000684657.1:c.607+97C>T	ENSP00000507961.1:n.607+97C>T
ENST00000279146.8:c.787+97C>T MANE Select	ENSP00000279146.3:n.787+97C>T
ENST00000279146.7:c.787+97C>T	ENSP00000279146.3:n.787+97C>T
ENST00000525341.1:c.536C>T	ENSP00000476993.1:p.Pro179Leu
ENST00000528641.6:c.598+97C>T	ENSP00000434982.2:n.598+97C>T
NM_001302959.1:c.610+97C>T	NP_001289888.1:n.610+97C>T
NM_001302960.1:c.779+105C>T	NP_001289889.1:n.779+105C>T
NM_003977.3:c.787+97C>T	NP_003968.3:n.787+97C>T
XM_024448761.1:c.787+97C>T	XP_024304529.1:n.787+97C>T
NM_003977.4:c.787+97C>T MANE Select	NP_003968.3:n.787+97C>T
NM_001302960.2:c.779+105C>T	NP_001289889.1:n.779+105C>T
NM_001302959.2:c.610+97C>T	NP_001289888.1:n.610+97C>T