Canonical Allele Identifier: CA2210097407
Community Standard Title: NM_004996.4(ABCC1):c.2168G= (p.Arg723=)
Gene: ABCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16083418G= , CM000678.2:g.16083418G= GRCh38
NC_000016.9:g.16177275G= , CM000678.1:g.16177275G= GRCh37
NC_000016.8:g.16084776G= NCBI36
NG_028268.1:g.138842G=
NG_028268.2:g.138842G=

Transcript Alleles

HGVS Amino-acid Change
NM_004996.4:c.2168G= MANE Select NP_004987.2:p.Arg723=
ENST00000399410.8:c.2168G= MANE Select ENSP00000382342.3:p.Arg723=
NM_004996.3:c.2168G= NP_004987.2:p.Arg723=
ENST00000399408.6:c.1190G= ENSP00000382340.3:p.Arg397=
ENST00000399408.7:c.2168G= ENSP00000382340.4:p.Arg723=
ENST00000399410.7:c.2168G= ENSP00000382342.3:p.Arg723=
ENST00000572882.2:c.1863G=
ENST00000572882.3:c.2116-3406G= ENSP00000461615.2:n.2116-3406G=
ENST00000575422.5:n.408G=
ENST00000677164.1:c.1989+3940G= ENSP00000502873.1:n.1989+3940G=
ENST00000678422.1:c.2168G= ENSP00000503954.1:p.Arg723=
XM_011522497.1:c.2144G= XP_011520799.1:p.Arg715=
XM_011522498.1:c.2075G= XP_011520800.1:p.Arg692=
XM_011522498.2:c.2075G= XP_011520800.1:p.Arg692=
XM_017023237.1:c.2222G= XP_016878726.1:p.Arg741=
XM_017023238.1:c.2096G= XP_016878727.1:p.Arg699=
XM_017023239.1:c.2084G= XP_016878728.1:p.Arg695=
XM_017023240.1:c.2170-3406G= XP_016878729.1:n.2170-3406G=
XM_017023241.1:c.1958G= XP_016878730.1:p.Arg653=
XM_017023242.1:c.2169+3940G= XP_016878731.1:n.2169+3940G=
XM_017023243.2:c.2222G= XP_016878732.1:p.Arg741=