Canonical Allele Identifier: CA6140906

Gene: AIP

Linked Data

• ClinVar Variation Id: 305730
• ClinVar RCV Id: RCV001848086
• dbSNP Id: rs776495655
• ExAC: 11:67257801 C / T
• gnomAD v2: 11-67257801-C-T
• gnomAD v4: 11-67490330-C-T
• MyVariant Identifiers: chr11:g.67257801C>T (hg19) ; chr11:g.67490330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490330C>T , CM000673.2:g.67490330C>T	GRCh38
NC_000011.9:g.67257801C>T , CM000673.1:g.67257801C>T	GRCh37
NC_000011.8:g.67014377C>T	NCBI36
NG_008969.1:g.12297C>T , LRG_460:g.12297C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.637C>T
ENST00000528641.7:c.471C>T	ENSP00000434982.3:p.Ser157=
ENST00000529797.2:n.1172C>T
ENST00000682324.1:c.469-667C>T	ENSP00000508017.1:n.469-667C>T
ENST00000682659.1:c.291C>T	ENSP00000507351.1:p.Ser97=
ENST00000682699.1:c.660C>T	ENSP00000507935.1:p.Ser220=
ENST00000683237.1:c.660C>T	ENSP00000507343.1:p.Ser220=
ENST00000683856.1:c.483C>T	ENSP00000507979.1:p.Ser161=
ENST00000684006.1:c.660C>T	ENSP00000507269.1:p.Ser220=
ENST00000684657.1:c.480C>T	ENSP00000507961.1:p.Ser160=
ENST00000279146.8:c.660C>T MANE Select	ENSP00000279146.3:p.Ser220=
ENST00000279146.7:c.660C>T	ENSP00000279146.3:p.Ser220=
ENST00000525341.1:c.312C>T	ENSP00000476993.1:p.Ser104=
ENST00000528641.6:c.471C>T	ENSP00000434982.2:p.Ser157=
NM_001302959.1:c.483C>T	NP_001289888.1:p.Ser161=
NM_001302960.1:c.660C>T	NP_001289889.1:p.Ser220=
NM_003977.3:c.660C>T	NP_003968.3:p.Ser220=
XM_024448761.1:c.660C>T	XP_024304529.1:p.Ser220=
NM_003977.4:c.660C>T MANE Select	NP_003968.3:p.Ser220=
NM_001302960.2:c.660C>T	NP_001289889.1:p.Ser220=
NM_001302959.2:c.483C>T	NP_001289888.1:p.Ser161=