Canonical Allele Identifier: CA394881999
Gene: ABCC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16016509A>C , CM000678.2:g.16016509A>C GRCh38
NC_000016.9:g.16110366A>C , CM000678.1:g.16110366A>C GRCh37
NC_000016.8:g.16017867A>C NCBI36
NG_028268.1:g.71933A>C
NG_028268.2:g.71933A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399408.7:c.503A>C ENSP00000382340.4:p.Asp168Ala
ENST00000399410.8:c.503A>C MANE Select ENSP00000382342.3:p.Asp168Ala
ENST00000572882.3:c.503A>C ENSP00000461615.2:p.Asp168Ala
ENST00000574224.2:n.578A>C
ENST00000677164.1:c.489+1881A>C ENSP00000502873.1:n.489+1881A>C
ENST00000678422.1:c.503A>C ENSP00000503954.1:p.Asp168Ala
ENST00000679043.1:n.455A>C
ENST00000399408.6:c.-476A>C ENSP00000382340.3:n.-476A>C
ENST00000399410.7:c.503A>C ENSP00000382342.3:p.Asp168Ala
ENST00000572882.2:c.198A>C
ENST00000574224.1:n.103A>C
NM_004996.3:c.503A>C NP_004987.2:p.Asp168Ala
XM_011522497.1:c.479A>C XP_011520799.1:p.Asp160Ala
XM_011522498.1:c.557A>C XP_011520800.1:p.Asp186Ala
XM_011522498.2:c.557A>C XP_011520800.1:p.Asp186Ala
XM_017023237.1:c.557A>C XP_016878726.1:p.Asp186Ala
XM_017023238.1:c.543+1881A>C XP_016878727.1:n.543+1881A>C
XM_017023239.1:c.419A>C XP_016878728.1:p.Asp140Ala
XM_017023240.1:c.557A>C XP_016878729.1:p.Asp186Ala
XM_017023241.1:c.405+6608A>C XP_016878730.1:n.405+6608A>C
XM_017023242.1:c.557A>C XP_016878731.1:p.Asp186Ala
XM_017023243.2:c.557A>C XP_016878732.1:p.Asp186Ala
NM_004996.4:c.503A>C MANE Select NP_004987.2:p.Asp168Ala