Canonical Allele Identifier: CA1087477553

Linked Data

dbSNP Id: rs1800330933
gnomAD v3: 6-31658041-C-T
gnomAD v4: 6-31658041-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31658041C>T , CM000668.2:g.31658041C>T GRCh38
NC_000006.11:g.31625818C>T , CM000668.1:g.31625818C>T GRCh37
NC_000006.10:g.31733797C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375916.4:c.542-23C>T (APOM) MANE Select ENSP00000365081.3:n.542-23C>T
ENST00000375916.3:c.542-23C>T (APOM) ENSP00000365081.3:n.542-23C>T
ENST00000375918.6:c.*253C>T (APOM) ENSP00000365083.2:n.*253C>T
ENST00000375920.8:c.326-23C>T (APOM) ENSP00000365085.4:n.326-23C>T
NM_001256169.1:c.326-23C>T (APOM) NP_001243098.1:n.326-23C>T
NM_019101.2:c.542-23C>T (APOM) NP_061974.2:n.542-23C>T
NR_045828.1:n.577-23C>T (APOM)
XM_006715150.2:c.446-23C>T (APOM) XP_006715213.1:n.446-23C>T
XM_011514895.1:c.-14+2280G>A (BAG6) XP_011513197.1:n.-14+2280G>A
XM_006715150.3:c.446-23C>T (APOM) XP_006715213.1:n.446-23C>T
XM_017011279.2:c.-14+2280G>A (BAG6) XP_016866768.1:n.-14+2280G>A
NM_019101.3:c.542-23C>T (APOM) MANE Select NP_061974.2:n.542-23C>T
NM_001256169.2:c.326-23C>T (APOM) NP_001243098.1:n.326-23C>T
NR_045828.2:n.583-23C>T (APOM)