Canonical Allele Identifier: CA394879009
Gene: ABCC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16134399G>A , CM000678.2:g.16134399G>A GRCh38
NC_000016.9:g.16228256G>A , CM000678.1:g.16228256G>A GRCh37
NC_000016.8:g.16135757G>A NCBI36
NG_028268.1:g.189823G>A
NG_028268.2:g.189823G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000399408.7:c.4046G>A ENSP00000382340.4:p.Gly1349Asp
ENST00000399410.8:c.4016G>A MANE Select ENSP00000382342.3:p.Gly1339Asp
ENST00000572882.3:c.3839G>A ENSP00000461615.2:p.Gly1280Asp
ENST00000676806.1:n.742G>A
ENST00000677164.1:c.3545G>A ENSP00000502873.1:p.Gly1182Asp
ENST00000678422.1:c.*1308G>A ENSP00000503954.1:n.*1308G>A
ENST00000399408.6:c.3068G>A ENSP00000382340.3:p.Gly1023Asp
ENST00000399410.7:c.4016G>A ENSP00000382342.3:p.Gly1339Asp
ENST00000572882.2:c.3741G>A
NM_004996.3:c.4016G>A NP_004987.2:p.Gly1339Asp
XM_011522497.1:c.3992G>A XP_011520799.1:p.Gly1331Asp
XM_011522498.1:c.3923G>A XP_011520800.1:p.Gly1308Asp
XM_011522498.2:c.3923G>A XP_011520800.1:p.Gly1308Asp
XM_017023237.1:c.4070G>A XP_016878726.1:p.Gly1357Asp
XM_017023238.1:c.3944G>A XP_016878727.1:p.Gly1315Asp
XM_017023239.1:c.3932G>A XP_016878728.1:p.Gly1311Asp
XM_017023240.1:c.3893G>A XP_016878729.1:p.Gly1298Asp
XM_017023241.1:c.3806G>A XP_016878730.1:p.Gly1269Asp
XM_017023242.1:c.3725G>A XP_016878731.1:p.Gly1242Asp
NM_004996.4:c.4016G>A MANE Select NP_004987.2:p.Gly1339Asp