Canonical Allele Identifier: CA394882032
Gene: ABCC1 HGNC NCBI

Linked Data

dbSNP Id: rs2151763887

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16016525C>G , CM000678.2:g.16016525C>G GRCh38
NC_000016.9:g.16110382C>G , CM000678.1:g.16110382C>G GRCh37
NC_000016.8:g.16017883C>G NCBI36
NG_028268.1:g.71949C>G
NG_028268.2:g.71949C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399408.7:c.519C>G ENSP00000382340.4:p.Ile173Met
ENST00000399410.8:c.519C>G MANE Select ENSP00000382342.3:p.Ile173Met
ENST00000572882.3:c.519C>G ENSP00000461615.2:p.Ile173Met
ENST00000574224.2:n.594C>G
ENST00000677164.1:c.489+1897C>G ENSP00000502873.1:n.489+1897C>G
ENST00000678422.1:c.519C>G ENSP00000503954.1:p.Ile173Met
ENST00000679043.1:n.471C>G
ENST00000399408.6:c.-460C>G ENSP00000382340.3:n.-460C>G
ENST00000399410.7:c.519C>G ENSP00000382342.3:p.Ile173Met
ENST00000572882.2:c.214C>G
ENST00000574224.1:n.119C>G
NM_004996.3:c.519C>G NP_004987.2:p.Ile173Met
XM_011522497.1:c.495C>G XP_011520799.1:p.Ile165Met
XM_011522498.1:c.573C>G XP_011520800.1:p.Ile191Met
XM_011522498.2:c.573C>G XP_011520800.1:p.Ile191Met
XM_017023237.1:c.573C>G XP_016878726.1:p.Ile191Met
XM_017023238.1:c.543+1897C>G XP_016878727.1:n.543+1897C>G
XM_017023239.1:c.435C>G XP_016878728.1:p.Ile145Met
XM_017023240.1:c.573C>G XP_016878729.1:p.Ile191Met
XM_017023241.1:c.405+6624C>G XP_016878730.1:n.405+6624C>G
XM_017023242.1:c.573C>G XP_016878731.1:p.Ile191Met
XM_017023243.2:c.573C>G XP_016878732.1:p.Ile191Met
NM_004996.4:c.519C>G MANE Select NP_004987.2:p.Ile173Met