Canonical Allele Identifier: CA381551873

Gene: AIP

Linked Data

• ClinVar Variation Id: 2126110
• ClinVar RCV Id: RCV003049912
• MyVariant Identifiers: chr11:g.67257889G>C (hg19) ; chr11:g.67490418G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490418G>C , CM000673.2:g.67490418G>C	GRCh38
NC_000011.9:g.67257889G>C , CM000673.1:g.67257889G>C	GRCh37
NC_000011.8:g.67014465G>C	NCBI36
NG_008969.1:g.12385G>C , LRG_460:g.12385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.725G>C
ENST00000528641.7:c.559G>C	ENSP00000434982.3:p.Val187Leu
ENST00000529797.2:n.1260G>C
ENST00000682324.1:c.469-579G>C	ENSP00000508017.1:n.469-579G>C
ENST00000682659.1:c.379G>C	ENSP00000507351.1:p.Val127Leu
ENST00000682699.1:c.748G>C	ENSP00000507935.1:p.Val250Leu
ENST00000683237.1:c.748G>C	ENSP00000507343.1:p.Val250Leu
ENST00000683856.1:c.571G>C	ENSP00000507979.1:p.Val191Leu
ENST00000684006.1:c.748G>C	ENSP00000507269.1:p.Val250Leu
ENST00000684657.1:c.568G>C	ENSP00000507961.1:p.Val190Leu
ENST00000279146.8:c.748G>C MANE Select	ENSP00000279146.3:p.Val250Leu
ENST00000279146.7:c.748G>C	ENSP00000279146.3:p.Val250Leu
ENST00000525341.1:c.400G>C	ENSP00000476993.1:p.Val134Leu
ENST00000528641.6:c.559G>C	ENSP00000434982.2:p.Val187Leu
NM_001302959.1:c.571G>C	NP_001289888.1:p.Val191Leu
NM_001302960.1:c.748G>C	NP_001289889.1:p.Val250Leu
NM_003977.3:c.748G>C	NP_003968.3:p.Val250Leu
XM_024448761.1:c.748G>C	XP_024304529.1:p.Val250Leu
NM_003977.4:c.748G>C MANE Select	NP_003968.3:p.Val250Leu
NM_001302960.2:c.748G>C	NP_001289889.1:p.Val250Leu
NM_001302959.2:c.571G>C	NP_001289888.1:p.Val191Leu