Canonical Allele Identifier: CA394878692
Gene: ABCC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16134393C>T , CM000678.2:g.16134393C>T GRCh38
NC_000016.9:g.16228250C>T , CM000678.1:g.16228250C>T GRCh37
NC_000016.8:g.16135751C>T NCBI36
NG_028268.1:g.189817C>T
NG_028268.2:g.189817C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399408.7:c.4040C>T ENSP00000382340.4:p.Thr1347Ile
ENST00000399410.8:c.4010C>T MANE Select ENSP00000382342.3:p.Thr1337Ile
ENST00000572882.3:c.3833C>T ENSP00000461615.2:p.Thr1278Ile
ENST00000676806.1:n.736C>T
ENST00000677164.1:c.3539C>T ENSP00000502873.1:p.Thr1180Ile
ENST00000678422.1:c.*1302C>T ENSP00000503954.1:n.*1302C>T
ENST00000399408.6:c.3062C>T ENSP00000382340.3:p.Thr1021Ile
ENST00000399410.7:c.4010C>T ENSP00000382342.3:p.Thr1337Ile
ENST00000572882.2:c.3735C>T
NM_004996.3:c.4010C>T NP_004987.2:p.Thr1337Ile
XM_011522497.1:c.3986C>T XP_011520799.1:p.Thr1329Ile
XM_011522498.1:c.3917C>T XP_011520800.1:p.Thr1306Ile
XM_011522498.2:c.3917C>T XP_011520800.1:p.Thr1306Ile
XM_017023237.1:c.4064C>T XP_016878726.1:p.Thr1355Ile
XM_017023238.1:c.3938C>T XP_016878727.1:p.Thr1313Ile
XM_017023239.1:c.3926C>T XP_016878728.1:p.Thr1309Ile
XM_017023240.1:c.3887C>T XP_016878729.1:p.Thr1296Ile
XM_017023241.1:c.3800C>T XP_016878730.1:p.Thr1267Ile
XM_017023242.1:c.3719C>T XP_016878731.1:p.Thr1240Ile
NM_004996.4:c.4010C>T MANE Select NP_004987.2:p.Thr1337Ile