Canonical Allele Identifier: CA394882030

Gene: ABCC1

Linked Data

• gnomAD v4: 16-16016524-T-C
• MyVariant Identifiers: chr16:g.16110381T>C (hg19) ; chr16:g.16016524T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16016524T>C , CM000678.2:g.16016524T>C	GRCh38
NC_000016.9:g.16110381T>C , CM000678.1:g.16110381T>C	GRCh37
NC_000016.8:g.16017882T>C	NCBI36
NG_028268.1:g.71948T>C
NG_028268.2:g.71948T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.518T>C	ENSP00000382340.4:p.Ile173Thr
ENST00000399410.8:c.518T>C MANE Select	ENSP00000382342.3:p.Ile173Thr
ENST00000572882.3:c.518T>C	ENSP00000461615.2:p.Ile173Thr
ENST00000574224.2:n.593T>C
ENST00000677164.1:c.489+1896T>C	ENSP00000502873.1:n.489+1896T>C
ENST00000678422.1:c.518T>C	ENSP00000503954.1:p.Ile173Thr
ENST00000679043.1:n.470T>C
ENST00000399408.6:c.-461T>C	ENSP00000382340.3:n.-461T>C
ENST00000399410.7:c.518T>C	ENSP00000382342.3:p.Ile173Thr
ENST00000572882.2:c.213T>C
ENST00000574224.1:n.118T>C
NM_004996.3:c.518T>C	NP_004987.2:p.Ile173Thr
XM_011522497.1:c.494T>C	XP_011520799.1:p.Ile165Thr
XM_011522498.1:c.572T>C	XP_011520800.1:p.Ile191Thr
XM_011522498.2:c.572T>C	XP_011520800.1:p.Ile191Thr
XM_017023237.1:c.572T>C	XP_016878726.1:p.Ile191Thr
XM_017023238.1:c.543+1896T>C	XP_016878727.1:n.543+1896T>C
XM_017023239.1:c.434T>C	XP_016878728.1:p.Ile145Thr
XM_017023240.1:c.572T>C	XP_016878729.1:p.Ile191Thr
XM_017023241.1:c.405+6623T>C	XP_016878730.1:n.405+6623T>C
XM_017023242.1:c.572T>C	XP_016878731.1:p.Ile191Thr
XM_017023243.2:c.572T>C	XP_016878732.1:p.Ile191Thr
NM_004996.4:c.518T>C MANE Select	NP_004987.2:p.Ile173Thr