Canonical Allele Identifier: CA566690940

Linked Data

dbSNP Id: rs1414781693
gnomAD v2: 6-31625394-C-T
gnomAD v3: 6-31657617-C-T
gnomAD v4: 6-31657617-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657617C>T , CM000668.2:g.31657617C>T GRCh38
NC_000006.11:g.31625394C>T , CM000668.1:g.31625394C>T GRCh37
NC_000006.10:g.31733373C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.443-8C>T (APOM) MANE Select ENSP00000365081.3:n.443-8C>T
ENST00000375916.3:c.443-8C>T (APOM) ENSP00000365081.3:n.443-8C>T
ENST00000375918.6:c.227-8C>T (APOM) ENSP00000365083.2:n.227-8C>T
ENST00000375920.8:c.227-8C>T (APOM) ENSP00000365085.4:n.227-8C>T
NM_001256169.1:c.227-8C>T (APOM) NP_001243098.1:n.227-8C>T
NM_019101.2:c.443-8C>T (APOM) NP_061974.2:n.443-8C>T
NR_045828.1:n.478-8C>T (APOM)
XM_006715150.2:c.347-8C>T (APOM) XP_006715213.1:n.347-8C>T
XM_011514895.1:c.-14+2704G>A (BAG6) XP_011513197.1:n.-14+2704G>A
XM_006715150.3:c.347-8C>T (APOM) XP_006715213.1:n.347-8C>T
XM_017011279.2:c.-14+2704G>A (BAG6) XP_016866768.1:n.-14+2704G>A
XM_024446545.1:c.-14+147G>A (BAG6) XP_024302313.1:n.-14+147G>A
NM_019101.3:c.443-8C>T (APOM) MANE Select NP_061974.2:n.443-8C>T
NM_001256169.2:c.227-8C>T (APOM) NP_001243098.1:n.227-8C>T
NR_045828.2:n.484-8C>T (APOM)