Canonical Allele Identifier: CA493794603
Gene: ABCC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16110463A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16016606A>G , CM000678.2:g.16016606A>G GRCh38
NC_000016.9:g.16110463A>G , CM000678.1:g.16110463A>G GRCh37
NC_000016.8:g.16017964A>G NCBI36
NG_028268.1:g.72030A>G
NG_028268.2:g.72030A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399408.7:c.600A>G ENSP00000382340.4:p.Glu200=
ENST00000399410.8:c.600A>G MANE Select ENSP00000382342.3:p.Glu200=
ENST00000572882.3:c.600A>G ENSP00000461615.2:p.Glu200=
ENST00000574224.2:n.675A>G
ENST00000677164.1:c.489+1978A>G ENSP00000502873.1:n.489+1978A>G
ENST00000678422.1:c.600A>G ENSP00000503954.1:p.Glu200=
ENST00000679043.1:n.552A>G
ENST00000399408.6:c.-379A>G ENSP00000382340.3:n.-379A>G
ENST00000399410.7:c.600A>G ENSP00000382342.3:p.Glu200=
ENST00000572882.2:c.295A>G
ENST00000574224.1:n.200A>G
NM_004996.3:c.600A>G NP_004987.2:p.Glu200=
XM_011522497.1:c.576A>G XP_011520799.1:p.Glu192=
XM_011522498.1:c.654A>G XP_011520800.1:p.Glu218=
XM_011522498.2:c.654A>G XP_011520800.1:p.Glu218=
XM_017023237.1:c.654A>G XP_016878726.1:p.Glu218=
XM_017023238.1:c.543+1978A>G XP_016878727.1:n.543+1978A>G
XM_017023239.1:c.516A>G XP_016878728.1:p.Glu172=
XM_017023240.1:c.654A>G XP_016878729.1:p.Glu218=
XM_017023241.1:c.405+6705A>G XP_016878730.1:n.405+6705A>G
XM_017023242.1:c.654A>G XP_016878731.1:p.Glu218=
XM_017023243.2:c.654A>G XP_016878732.1:p.Glu218=
NM_004996.4:c.600A>G MANE Select NP_004987.2:p.Glu200=