Canonical Allele Identifier: CA394880784
Gene: ABCC1 HGNC NCBI

Linked Data

dbSNP Id: rs35605

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16068162T>A , CM000678.2:g.16068162T>A GRCh38
NC_000016.9:g.16162019T>A , CM000678.1:g.16162019T>A GRCh37
NC_000016.8:g.16069520T>A NCBI36
NG_028268.1:g.123586T>A
NG_028268.2:g.123586T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000399408.7:c.1684T>A ENSP00000382340.4:p.Leu562Met
ENST00000399410.8:c.1684T>A MANE Select ENSP00000382342.3:p.Leu562Met
ENST00000572882.3:c.1684T>A ENSP00000461615.2:p.Leu562Met
ENST00000677164.1:c.1558T>A ENSP00000502873.1:p.Leu520Met
ENST00000678422.1:c.1684T>A ENSP00000503954.1:p.Leu562Met
ENST00000399408.6:c.706T>A ENSP00000382340.3:p.Leu236Met
ENST00000399410.7:c.1684T>A ENSP00000382342.3:p.Leu562Met
ENST00000572882.2:c.1379T>A
NM_004996.3:c.1684T>A NP_004987.2:p.Leu562Met
XM_011522497.1:c.1660T>A XP_011520799.1:p.Leu554Met
XM_011522498.1:c.1732-3480T>A XP_011520800.1:n.1732-3480T>A
XM_011522498.2:c.1732-3480T>A XP_011520800.1:n.1732-3480T>A
XM_017023237.1:c.1738T>A XP_016878726.1:p.Leu580Met
XM_017023238.1:c.1612T>A XP_016878727.1:p.Leu538Met
XM_017023239.1:c.1600T>A XP_016878728.1:p.Leu534Met
XM_017023240.1:c.1738T>A XP_016878729.1:p.Leu580Met
XM_017023241.1:c.1474T>A XP_016878730.1:p.Leu492Met
XM_017023242.1:c.1738T>A XP_016878731.1:p.Leu580Met
XM_017023243.2:c.1738T>A XP_016878732.1:p.Leu580Met
NM_004996.4:c.1684T>A MANE Select NP_004987.2:p.Leu562Met