Canonical Allele Identifier: CA394882206
Gene: ABCC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16016607A>T , CM000678.2:g.16016607A>T GRCh38
NC_000016.9:g.16110464A>T , CM000678.1:g.16110464A>T GRCh37
NC_000016.8:g.16017965A>T NCBI36
NG_028268.1:g.72031A>T
NG_028268.2:g.72031A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399408.7:c.601A>T ENSP00000382340.4:p.Thr201Ser
ENST00000399410.8:c.601A>T MANE Select ENSP00000382342.3:p.Thr201Ser
ENST00000572882.3:c.601A>T ENSP00000461615.2:p.Thr201Ser
ENST00000574224.2:n.676A>T
ENST00000677164.1:c.489+1979A>T ENSP00000502873.1:n.489+1979A>T
ENST00000678422.1:c.601A>T ENSP00000503954.1:p.Thr201Ser
ENST00000679043.1:n.553A>T
ENST00000399408.6:c.-378A>T ENSP00000382340.3:n.-378A>T
ENST00000399410.7:c.601A>T ENSP00000382342.3:p.Thr201Ser
ENST00000572882.2:c.296A>T
ENST00000574224.1:n.201A>T
NM_004996.3:c.601A>T NP_004987.2:p.Thr201Ser
XM_011522497.1:c.577A>T XP_011520799.1:p.Thr193Ser
XM_011522498.1:c.655A>T XP_011520800.1:p.Thr219Ser
XM_011522498.2:c.655A>T XP_011520800.1:p.Thr219Ser
XM_017023237.1:c.655A>T XP_016878726.1:p.Thr219Ser
XM_017023238.1:c.543+1979A>T XP_016878727.1:n.543+1979A>T
XM_017023239.1:c.517A>T XP_016878728.1:p.Thr173Ser
XM_017023240.1:c.655A>T XP_016878729.1:p.Thr219Ser
XM_017023241.1:c.405+6706A>T XP_016878730.1:n.405+6706A>T
XM_017023242.1:c.655A>T XP_016878731.1:p.Thr219Ser
XM_017023243.2:c.655A>T XP_016878732.1:p.Thr219Ser
NM_004996.4:c.601A>T MANE Select NP_004987.2:p.Thr201Ser