Canonical Allele Identifier: CA2516152499

Gene: ABCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16034804T>C , CM000678.2:g.16034804T>C	GRCh38
NC_000016.9:g.16128661T>C , CM000678.1:g.16128661T>C	GRCh37
NC_000016.8:g.16036162T>C	NCBI36
NG_028268.1:g.90228T>C
NG_028268.2:g.90228T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.677+1634T>C	ENSP00000382340.4:n.677+1634T>C
ENST00000399410.8:c.677+1634T>C MANE Select	ENSP00000382342.3:n.677+1634T>C
ENST00000572882.3:c.677+1634T>C	ENSP00000461615.2:n.677+1634T>C
ENST00000574224.2:n.752+1634T>C
ENST00000677164.1:c.551+1634T>C	ENSP00000502873.1:n.551+1634T>C
ENST00000678422.1:c.677+1634T>C	ENSP00000503954.1:n.677+1634T>C
ENST00000679043.1:n.629+1634T>C
ENST00000399408.6:c.-302+1634T>C	ENSP00000382340.3:n.-302+1634T>C
ENST00000399410.7:c.677+1634T>C	ENSP00000382342.3:n.677+1634T>C
ENST00000572882.2:c.372+1634T>C
ENST00000574224.1:n.277+1634T>C
NM_004996.3:c.677+1634T>C	NP_004987.2:n.677+1634T>C
XM_011522497.1:c.653+1634T>C	XP_011520799.1:n.653+1634T>C
XM_011522498.1:c.731+1634T>C	XP_011520800.1:n.731+1634T>C
XM_011522498.2:c.731+1634T>C	XP_011520800.1:n.731+1634T>C
XM_017023237.1:c.731+1634T>C	XP_016878726.1:n.731+1634T>C
XM_017023238.1:c.605+1634T>C	XP_016878727.1:n.605+1634T>C
XM_017023239.1:c.593+1634T>C	XP_016878728.1:n.593+1634T>C
XM_017023240.1:c.731+1634T>C	XP_016878729.1:n.731+1634T>C
XM_017023241.1:c.467+1634T>C	XP_016878730.1:n.467+1634T>C
XM_017023242.1:c.731+1634T>C	XP_016878731.1:n.731+1634T>C
XM_017023243.2:c.731+1634T>C	XP_016878732.1:n.731+1634T>C
NM_004996.4:c.677+1634T>C MANE Select	NP_004987.2:n.677+1634T>C