Canonical Allele Identifier: CA394879032

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16228262T>G (hg19) ; chr16:g.16134405T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134405T>G , CM000678.2:g.16134405T>G	GRCh38
NC_000016.9:g.16228262T>G , CM000678.1:g.16228262T>G	GRCh37
NC_000016.8:g.16135763T>G	NCBI36
NG_028268.1:g.189829T>G
NG_028268.2:g.189829T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399408.7:c.4052T>G	ENSP00000382340.4:p.Phe1351Cys
ENST00000399410.8:c.4022T>G MANE Select	ENSP00000382342.3:p.Phe1341Cys
ENST00000572882.3:c.3845T>G	ENSP00000461615.2:p.Phe1282Cys
ENST00000676806.1:n.748T>G
ENST00000677164.1:c.3551T>G	ENSP00000502873.1:p.Phe1184Cys
ENST00000678422.1:c.*1314T>G	ENSP00000503954.1:n.*1314T>G
ENST00000399408.6:c.3074T>G	ENSP00000382340.3:p.Phe1025Cys
ENST00000399410.7:c.4022T>G	ENSP00000382342.3:p.Phe1341Cys
ENST00000572882.2:c.3747T>G
NM_004996.3:c.4022T>G	NP_004987.2:p.Phe1341Cys
XM_011522497.1:c.3998T>G	XP_011520799.1:p.Phe1333Cys
XM_011522498.1:c.3929T>G	XP_011520800.1:p.Phe1310Cys
XM_011522498.2:c.3929T>G	XP_011520800.1:p.Phe1310Cys
XM_017023237.1:c.4076T>G	XP_016878726.1:p.Phe1359Cys
XM_017023238.1:c.3950T>G	XP_016878727.1:p.Phe1317Cys
XM_017023239.1:c.3938T>G	XP_016878728.1:p.Phe1313Cys
XM_017023240.1:c.3899T>G	XP_016878729.1:p.Phe1300Cys
XM_017023241.1:c.3812T>G	XP_016878730.1:p.Phe1271Cys
XM_017023242.1:c.3731T>G	XP_016878731.1:p.Phe1244Cys
NM_004996.4:c.4022T>G MANE Select	NP_004987.2:p.Phe1341Cys