Canonical Allele Identifier: CA154176

Linked Data

ClinVar Variation Id: 129846
dbSNP Id: rs892028

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49908485A>G , CM000681.2:g.49908485A>G GRCh38
NC_000019.9:g.50411742A>G , CM000681.1:g.50411742A>G GRCh37
NC_000019.8:g.55103554A>G NCBI36
NG_021170.1:g.26021T>C
NG_023448.1:g.26247T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000596437.6:c.1323T>C (NUP62) ENSP00000468842.2:p.Asp441=
ENST00000597029.6:c.1323T>C (NUP62) ENSP00000473192.1:p.Asp441=
ENST00000598301.2:c.1323T>C (NUP62) ENSP00000515009.1:p.Asp441=
ENST00000599560.6:c.1323T>C (NUP62) ENSP00000515013.1:p.Asp441=
ENST00000599788.2:c.1323T>C (NUP62) ENSP00000468884.2:p.Asp441=
ENST00000600583.6:c.1323T>C (NUP62) ENSP00000515011.1:p.Asp441=
ENST00000600935.2:c.1323T>C (NUP62) ENSP00000468839.2:p.Asp441=
ENST00000700473.1:c.1323T>C (NUP62) ENSP00000515006.1:p.Asp441=
ENST00000700474.1:c.1323T>C (NUP62) ENSP00000515007.1:p.Asp441=
ENST00000700475.1:c.1323T>C (NUP62) ENSP00000515008.1:p.Asp441=
ENST00000700476.1:c.1323T>C (NUP62) ENSP00000515010.1:p.Asp441=
ENST00000700477.1:c.1323T>C (NUP62) ENSP00000515012.1:p.Asp441=
ENST00000700478.1:c.1323T>C (NUP62) ENSP00000515014.1:p.Asp441=
ENST00000352066.8:c.1323T>C (NUP62) MANE Select ENSP00000305503.3:p.Asp441=
ENST00000341114.7:c.-227-4164T>C (IL4I1) ENSP00000342557.2:n.-227-4164T>C
ENST00000352066.7:c.1323T>C (NUP62) ENSP00000305503.2:p.Asp441=
ENST00000422090.2:c.1323T>C (NUP62) ENSP00000407331.1:p.Asp441=
ENST00000595948.5:c.-285-4164T>C (IL4I1) ENSP00000472474.1:n.-285-4164T>C
ENST00000596011.1:c.-328-4164T>C (IL4I1) ENSP00000472786.1:n.-328-4164T>C
ENST00000596022.5:c.-227-4164T>C (IL4I1) ENSP00000471950.1:n.-227-4164T>C
ENST00000596217.1:c.1323T>C (NUP62) ENSP00000471191.1:p.Asp441=
ENST00000597029.5:c.1323T>C (NUP62) ENSP00000473192.1:p.Asp441=
ENST00000597295.5:c.-145-4164T>C (IL4I1) ENSP00000469841.1:n.-145-4164T>C
ENST00000597723.5:c.1095T>C (NUP62) ENSP00000469283.1:p.Asp365=
ENST00000601717.5:c.-227-4164T>C (IL4I1) ENSP00000469467.1:n.-227-4164T>C
NM_001193357.1:c.1323T>C (NUP62) NP_001180286.1:p.Asp441=
NM_001258017.1:c.-227-4164T>C (IL4I1) NP_001244946.1:n.-227-4164T>C
NM_001258018.1:c.-285-4164T>C (IL4I1) NP_001244947.1:n.-285-4164T>C
NM_012346.4:c.1323T>C (NUP62) NP_036478.2:p.Asp441=
NM_016553.4:c.1323T>C (NUP62) NP_057637.2:p.Asp441=
NM_153718.3:c.1323T>C (NUP62) NP_714940.1:p.Asp441=
NM_153719.3:c.1323T>C (NUP62) NP_714941.1:p.Asp441=
NM_172374.2:c.-227-4164T>C (IL4I1) NP_758962.1:n.-227-4164T>C
NR_047577.1:n.337-4164T>C (IL4I1)
NM_001193357.2:c.1323T>C (NUP62) NP_001180286.1:p.Asp441=
NM_001258017.2:c.-227-4164T>C (IL4I1) NP_001244946.1:n.-227-4164T>C
NM_001258018.2:c.-285-4164T>C (IL4I1) NP_001244947.1:n.-285-4164T>C
NM_012346.5:c.1323T>C (NUP62) NP_036478.2:p.Asp441=
NM_016553.5:c.1323T>C (NUP62) MANE Select NP_057637.2:p.Asp441=
NM_153718.4:c.1323T>C (NUP62) NP_714940.1:p.Asp441=
NM_153719.4:c.1323T>C (NUP62) NP_714941.1:p.Asp441=
NM_172374.3:c.-227-4164T>C (IL4I1) NP_758962.1:n.-227-4164T>C
NR_047577.2:n.302-4164T>C (IL4I1)