Canonical Allele Identifier: CA136880242

Linked Data

dbSNP Id: rs940772670
gnomAD v2: 6-31623761-G-T
gnomAD v3: 6-31655984-G-T
gnomAD v4: 6-31655984-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31655984G>T , CM000668.2:g.31655984G>T GRCh38
NC_000006.11:g.31623761G>T , CM000668.1:g.31623761G>T GRCh37
NC_000006.10:g.31731740G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.18G>T (APOM) MANE Select ENSP00000365081.3:p.Trp6Cys
ENST00000375916.3:c.18G>T (APOM) ENSP00000365081.3:p.Trp6Cys
ENST00000375918.6:c.-102-488G>T (APOM) ENSP00000365083.2:n.-102-488G>T
ENST00000375920.8:c.-102-488G>T (APOM) ENSP00000365085.4:n.-102-488G>T
NM_001256169.1:c.-102-488G>T (APOM) NP_001243098.1:n.-102-488G>T
NM_019101.2:c.18G>T (APOM) NP_061974.2:p.Trp6Cys
NR_045828.1:n.143-488G>T (APOM)
XM_006715150.2:c.-86G>T (APOM) XP_006715213.1:n.-86G>T
XM_011514895.1:c.-13-4208C>A (BAG6) XP_011513197.1:n.-13-4208C>A
XM_006715150.3:c.-86G>T (APOM) XP_006715213.1:n.-86G>T
XM_017011279.2:c.-13-4208C>A (BAG6) XP_016866768.1:n.-13-4208C>A
XM_024446545.1:c.-14+1780C>A (BAG6) XP_024302313.1:n.-14+1780C>A
NM_019101.3:c.18G>T (APOM) MANE Select NP_061974.2:p.Trp6Cys
NM_001256169.2:c.-102-488G>T (APOM) NP_001243098.1:n.-102-488G>T
NR_045828.2:n.149-488G>T (APOM)