Canonical Allele Identifier: CA6141018

Gene: AIP

Linked Data

• ClinVar Variation Id: 485066
• ClinVar RCV Id: RCV001487872
• dbSNP Id: rs752438976
• ExAC: 11:67258461 T / C
• gnomAD v2: 11-67258461-T-C
• gnomAD v4: 11-67490990-T-C
• MyVariant Identifiers: chr11:g.67258461T>C (hg19) ; chr11:g.67490990T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490990T>C , CM000673.2:g.67490990T>C	GRCh38
NC_000011.9:g.67258461T>C , CM000673.1:g.67258461T>C	GRCh37
NC_000011.8:g.67015037T>C	NCBI36
NG_008969.1:g.12957T>C , LRG_460:g.12957T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.1297T>C
ENST00000528641.7:c.801T>C	ENSP00000434982.3:p.His267=
ENST00000529797.2:n.1832T>C
ENST00000682324.1:c.469-7T>C	ENSP00000508017.1:n.469-7T>C
ENST00000682659.1:c.621T>C	ENSP00000507351.1:p.His207=
ENST00000683237.1:c.*130T>C	ENSP00000507343.1:n.*130T>C
ENST00000683856.1:c.813T>C	ENSP00000507979.1:p.His271=
ENST00000684006.1:c.*130T>C	ENSP00000507269.1:n.*130T>C
ENST00000684657.1:c.810T>C	ENSP00000507961.1:p.His270=
ENST00000279146.8:c.990T>C MANE Select	ENSP00000279146.3:p.His330=
ENST00000279146.7:c.990T>C	ENSP00000279146.3:p.His330=
NM_001302959.1:c.813T>C	NP_001289888.1:p.His271=
NM_001302960.1:c.*130T>C	NP_001289889.1:n.*130T>C
NM_003977.3:c.990T>C	NP_003968.3:p.His330=
XM_024448761.1:c.990T>C	XP_024304529.1:p.His330=
NM_003977.4:c.990T>C MANE Select	NP_003968.3:p.His330=
NM_001302960.2:c.*130T>C	NP_001289889.1:n.*130T>C
NM_001302959.2:c.813T>C	NP_001289888.1:p.His271=