Canonical Allele Identifier: CA3717977

Linked Data

dbSNP Id: rs758181825
gnomAD v2: 6-31625034-T-C
gnomAD v4: 6-31657257-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657257T>C , CM000668.2:g.31657257T>C GRCh38
NC_000006.11:g.31625034T>C , CM000668.1:g.31625034T>C GRCh37
NC_000006.10:g.31733013T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375916.4:c.302T>C (APOM) MANE Select ENSP00000365081.3:p.Ile101Thr
ENST00000375916.3:c.302T>C (APOM) ENSP00000365081.3:p.Ile101Thr
ENST00000375918.6:c.86T>C (APOM) ENSP00000365083.2:p.Ile29Thr
ENST00000375920.8:c.86T>C (APOM) ENSP00000365085.4:p.Ile29Thr
NM_001256169.1:c.86T>C (APOM) NP_001243098.1:p.Ile29Thr
NM_019101.2:c.302T>C (APOM) NP_061974.2:p.Ile101Thr
NR_045828.1:n.337T>C (APOM)
XM_006715150.2:c.206T>C (APOM) XP_006715213.1:p.Ile69Thr
XM_011514895.1:c.-14+3064A>G (BAG6) XP_011513197.1:n.-14+3064A>G
XM_006715150.3:c.206T>C (APOM) XP_006715213.1:p.Ile69Thr
XM_017011279.2:c.-14+3064A>G (BAG6) XP_016866768.1:n.-14+3064A>G
XM_024446545.1:c.-14+507A>G (BAG6) XP_024302313.1:n.-14+507A>G
NM_019101.3:c.302T>C (APOM) MANE Select NP_061974.2:p.Ile101Thr
NM_001256169.2:c.86T>C (APOM) NP_001243098.1:p.Ile29Thr
NR_045828.2:n.343T>C (APOM)