Canonical Allele Identifier: CA394879007
Gene: ABCC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16134398G>T , CM000678.2:g.16134398G>T GRCh38
NC_000016.9:g.16228255G>T , CM000678.1:g.16228255G>T GRCh37
NC_000016.8:g.16135756G>T NCBI36
NG_028268.1:g.189822G>T
NG_028268.2:g.189822G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399408.7:c.4045G>T ENSP00000382340.4:p.Gly1349Cys
ENST00000399410.8:c.4015G>T MANE Select ENSP00000382342.3:p.Gly1339Cys
ENST00000572882.3:c.3838G>T ENSP00000461615.2:p.Gly1280Cys
ENST00000676806.1:n.741G>T
ENST00000677164.1:c.3544G>T ENSP00000502873.1:p.Gly1182Cys
ENST00000678422.1:c.*1307G>T ENSP00000503954.1:n.*1307G>T
ENST00000399408.6:c.3067G>T ENSP00000382340.3:p.Gly1023Cys
ENST00000399410.7:c.4015G>T ENSP00000382342.3:p.Gly1339Cys
ENST00000572882.2:c.3740G>T
NM_004996.3:c.4015G>T NP_004987.2:p.Gly1339Cys
XM_011522497.1:c.3991G>T XP_011520799.1:p.Gly1331Cys
XM_011522498.1:c.3922G>T XP_011520800.1:p.Gly1308Cys
XM_011522498.2:c.3922G>T XP_011520800.1:p.Gly1308Cys
XM_017023237.1:c.4069G>T XP_016878726.1:p.Gly1357Cys
XM_017023238.1:c.3943G>T XP_016878727.1:p.Gly1315Cys
XM_017023239.1:c.3931G>T XP_016878728.1:p.Gly1311Cys
XM_017023240.1:c.3892G>T XP_016878729.1:p.Gly1298Cys
XM_017023241.1:c.3805G>T XP_016878730.1:p.Gly1269Cys
XM_017023242.1:c.3724G>T XP_016878731.1:p.Gly1242Cys
NM_004996.4:c.4015G>T MANE Select NP_004987.2:p.Gly1339Cys