Canonical Allele Identifier: CA3718063

Linked Data

dbSNP Id: rs757585801
gnomAD v2: 6-31625863-C-T
gnomAD v4: 6-31658086-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31658086C>T , CM000668.2:g.31658086C>T GRCh38
NC_000006.11:g.31625863C>T , CM000668.1:g.31625863C>T GRCh37
NC_000006.10:g.31733842C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.564C>T (APOM) MANE Select ENSP00000365081.3:p.Asn188=
ENST00000375916.3:c.564C>T (APOM) ENSP00000365081.3:p.Asn188=
ENST00000375920.8:c.348C>T (APOM) ENSP00000365085.4:p.Asn116=
NM_001256169.1:c.348C>T (APOM) NP_001243098.1:p.Asn116=
NM_019101.2:c.564C>T (APOM) NP_061974.2:p.Asn188=
NR_045828.1:n.599C>T (APOM)
XM_006715150.2:c.468C>T (APOM) XP_006715213.1:p.Asn156=
XM_011514895.1:c.-14+2235G>A (BAG6) XP_011513197.1:n.-14+2235G>A
XM_006715150.3:c.468C>T (APOM) XP_006715213.1:p.Asn156=
XM_017011279.2:c.-14+2235G>A (BAG6) XP_016866768.1:n.-14+2235G>A
NM_019101.3:c.564C>T (APOM) MANE Select NP_061974.2:p.Asn188=
NM_001256169.2:c.348C>T (APOM) NP_001243098.1:p.Asn116=
NR_045828.2:n.605C>T (APOM)