Canonical Allele Identifier: CA381551540

Gene: AIP

Linked Data

• ClinVar Variation Id: 1455922
• ClinVar RCV Id: RCV001946746
• dbSNP Id: rs2134255291
• MyVariant Identifiers: chr11:g.67257814C>T (hg19) ; chr11:g.67490343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490343C>T , CM000673.2:g.67490343C>T	GRCh38
NC_000011.9:g.67257814C>T , CM000673.1:g.67257814C>T	GRCh37
NC_000011.8:g.67014390C>T	NCBI36
NG_008969.1:g.12310C>T , LRG_460:g.12310C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.650C>T
ENST00000528641.7:c.484C>T	ENSP00000434982.3:p.Gln162Ter
ENST00000529797.2:n.1185C>T
ENST00000682324.1:c.469-654C>T	ENSP00000508017.1:n.469-654C>T
ENST00000682659.1:c.304C>T	ENSP00000507351.1:p.Gln102Ter
ENST00000682699.1:c.673C>T	ENSP00000507935.1:p.Gln225Ter
ENST00000683237.1:c.673C>T	ENSP00000507343.1:p.Gln225Ter
ENST00000683856.1:c.496C>T	ENSP00000507979.1:p.Gln166Ter
ENST00000684006.1:c.673C>T	ENSP00000507269.1:p.Gln225Ter
ENST00000684657.1:c.493C>T	ENSP00000507961.1:p.Gln165Ter
ENST00000279146.8:c.673C>T MANE Select	ENSP00000279146.3:p.Gln225Ter
ENST00000279146.7:c.673C>T	ENSP00000279146.3:p.Gln225Ter
ENST00000525341.1:c.325C>T	ENSP00000476993.1:p.Gln109Ter
ENST00000528641.6:c.484C>T	ENSP00000434982.2:p.Gln162Ter
NM_001302959.1:c.496C>T	NP_001289888.1:p.Gln166Ter
NM_001302960.1:c.673C>T	NP_001289889.1:p.Gln225Ter
NM_003977.3:c.673C>T	NP_003968.3:p.Gln225Ter
XM_024448761.1:c.673C>T	XP_024304529.1:p.Gln225Ter
NM_003977.4:c.673C>T MANE Select	NP_003968.3:p.Gln225Ter
NM_001302960.2:c.673C>T	NP_001289889.1:p.Gln225Ter
NM_001302959.2:c.496C>T	NP_001289888.1:p.Gln166Ter