Canonical Allele Identifier: CA475509318

Gene: AIP

Linked Data

• ClinVar Variation Id: 2741410
• ClinVar RCV Id: RCV003555652
• gnomAD v4: 11-67490447-C-T
• MyVariant Identifiers: chr11:g.67257918C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490447C>T , CM000673.2:g.67490447C>T	GRCh38
NC_000011.9:g.67257918C>T , CM000673.1:g.67257918C>T	GRCh37
NC_000011.8:g.67014494C>T	NCBI36
NG_008969.1:g.12414C>T , LRG_460:g.12414C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.754C>T
ENST00000528641.7:c.588C>T	ENSP00000434982.3:p.Asn196=
ENST00000529797.2:n.1289C>T
ENST00000682324.1:c.469-550C>T	ENSP00000508017.1:n.469-550C>T
ENST00000682659.1:c.408C>T	ENSP00000507351.1:p.Asn136=
ENST00000682699.1:c.777C>T	ENSP00000507935.1:p.Asn259=
ENST00000683237.1:c.777C>T	ENSP00000507343.1:p.Asn259=
ENST00000683856.1:c.600C>T	ENSP00000507979.1:p.Asn200=
ENST00000684006.1:c.777C>T	ENSP00000507269.1:p.Asn259=
ENST00000684657.1:c.597C>T	ENSP00000507961.1:p.Asn199=
ENST00000279146.8:c.777C>T MANE Select	ENSP00000279146.3:p.Asn259=
ENST00000279146.7:c.777C>T	ENSP00000279146.3:p.Asn259=
ENST00000525341.1:c.429C>T	ENSP00000476993.1:p.Asn143=
ENST00000528641.6:c.588C>T	ENSP00000434982.2:p.Asn196=
NM_001302959.1:c.600C>T	NP_001289888.1:p.Asn200=
NM_001302960.1:c.777C>T	NP_001289889.1:p.Asn259=
NM_003977.3:c.777C>T	NP_003968.3:p.Asn259=
XM_024448761.1:c.777C>T	XP_024304529.1:p.Asn259=
NM_003977.4:c.777C>T MANE Select	NP_003968.3:p.Asn259=
NM_001302960.2:c.777C>T	NP_001289889.1:p.Asn259=
NM_001302959.2:c.600C>T	NP_001289888.1:p.Asn200=