Canonical Allele Identifier: CA2210060902
Gene: ABCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16016512T= , CM000678.2:g.16016512T= GRCh38
NC_000016.9:g.16110369T= , CM000678.1:g.16110369T= GRCh37
NC_000016.8:g.16017870T= NCBI36
NG_028268.1:g.71936T=
NG_028268.2:g.71936T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000399408.7:c.506T= ENSP00000382340.4:p.Leu169=
ENST00000399410.8:c.506T= MANE Select ENSP00000382342.3:p.Leu169=
ENST00000572882.3:c.506T= ENSP00000461615.2:p.Leu169=
ENST00000574224.2:n.581T=
ENST00000677164.1:c.489+1884T= ENSP00000502873.1:n.489+1884T=
ENST00000678422.1:c.506T= ENSP00000503954.1:p.Leu169=
ENST00000679043.1:n.458T=
ENST00000399408.6:c.-473T= ENSP00000382340.3:n.-473T=
ENST00000399410.7:c.506T= ENSP00000382342.3:p.Leu169=
ENST00000572882.2:c.201T=
ENST00000574224.1:n.106T=
NM_004996.3:c.506T= NP_004987.2:p.Leu169=
XM_011522497.1:c.482T= XP_011520799.1:p.Leu161=
XM_011522498.1:c.560T= XP_011520800.1:p.Leu187=
XM_011522498.2:c.560T= XP_011520800.1:p.Leu187=
XM_017023237.1:c.560T= XP_016878726.1:p.Leu187=
XM_017023238.1:c.543+1884T= XP_016878727.1:n.543+1884T=
XM_017023239.1:c.422T= XP_016878728.1:p.Leu141=
XM_017023240.1:c.560T= XP_016878729.1:p.Leu187=
XM_017023241.1:c.405+6611T= XP_016878730.1:n.405+6611T=
XM_017023242.1:c.560T= XP_016878731.1:p.Leu187=
XM_017023243.2:c.560T= XP_016878732.1:p.Leu187=
NM_004996.4:c.506T= MANE Select NP_004987.2:p.Leu169=