Canonical Allele Identifier: CA394878999

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16228253T>A (hg19) ; chr16:g.16134396T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134396T>A , CM000678.2:g.16134396T>A	GRCh38
NC_000016.9:g.16228253T>A , CM000678.1:g.16228253T>A	GRCh37
NC_000016.8:g.16135754T>A	NCBI36
NG_028268.1:g.189820T>A
NG_028268.2:g.189820T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399408.7:c.4043T>A	ENSP00000382340.4:p.Leu1348Gln
ENST00000399410.8:c.4013T>A MANE Select	ENSP00000382342.3:p.Leu1338Gln
ENST00000572882.3:c.3836T>A	ENSP00000461615.2:p.Leu1279Gln
ENST00000676806.1:n.739T>A
ENST00000677164.1:c.3542T>A	ENSP00000502873.1:p.Leu1181Gln
ENST00000678422.1:c.*1305T>A	ENSP00000503954.1:n.*1305T>A
ENST00000399408.6:c.3065T>A	ENSP00000382340.3:p.Leu1022Gln
ENST00000399410.7:c.4013T>A	ENSP00000382342.3:p.Leu1338Gln
ENST00000572882.2:c.3738T>A
NM_004996.3:c.4013T>A	NP_004987.2:p.Leu1338Gln
XM_011522497.1:c.3989T>A	XP_011520799.1:p.Leu1330Gln
XM_011522498.1:c.3920T>A	XP_011520800.1:p.Leu1307Gln
XM_011522498.2:c.3920T>A	XP_011520800.1:p.Leu1307Gln
XM_017023237.1:c.4067T>A	XP_016878726.1:p.Leu1356Gln
XM_017023238.1:c.3941T>A	XP_016878727.1:p.Leu1314Gln
XM_017023239.1:c.3929T>A	XP_016878728.1:p.Leu1310Gln
XM_017023240.1:c.3890T>A	XP_016878729.1:p.Leu1297Gln
XM_017023241.1:c.3803T>A	XP_016878730.1:p.Leu1268Gln
XM_017023242.1:c.3722T>A	XP_016878731.1:p.Leu1241Gln
NM_004996.4:c.4013T>A MANE Select	NP_004987.2:p.Leu1338Gln