Canonical Allele Identifier: CA278660878
Gene: ABCC1 HGNC NCBI

Linked Data

dbSNP Id: rs28364006
gnomAD v4: 16-16134392-A-G
MyVariant Identifiers: chr16:g.16228249A>G (hg19) chr16:g.16134392A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16134392A>G , CM000678.2:g.16134392A>G GRCh38
NC_000016.9:g.16228249A>G , CM000678.1:g.16228249A>G GRCh37
NC_000016.8:g.16135750A>G NCBI36
NG_028268.1:g.189816A>G
NG_028268.2:g.189816A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000399408.7:c.4039A>G ENSP00000382340.4:p.Thr1347Ala
ENST00000399410.8:c.4009A>G MANE Select ENSP00000382342.3:p.Thr1337Ala
ENST00000572882.3:c.3832A>G ENSP00000461615.2:p.Thr1278Ala
ENST00000676806.1:n.735A>G
ENST00000677164.1:c.3538A>G ENSP00000502873.1:p.Thr1180Ala
ENST00000678422.1:c.*1301A>G ENSP00000503954.1:n.*1301A>G
ENST00000399408.6:c.3061A>G ENSP00000382340.3:p.Thr1021Ala
ENST00000399410.7:c.4009A>G ENSP00000382342.3:p.Thr1337Ala
ENST00000572882.2:c.3734A>G
NM_004996.3:c.4009A>G NP_004987.2:p.Thr1337Ala
XM_011522497.1:c.3985A>G XP_011520799.1:p.Thr1329Ala
XM_011522498.1:c.3916A>G XP_011520800.1:p.Thr1306Ala
XM_011522498.2:c.3916A>G XP_011520800.1:p.Thr1306Ala
XM_017023237.1:c.4063A>G XP_016878726.1:p.Thr1355Ala
XM_017023238.1:c.3937A>G XP_016878727.1:p.Thr1313Ala
XM_017023239.1:c.3925A>G XP_016878728.1:p.Thr1309Ala
XM_017023240.1:c.3886A>G XP_016878729.1:p.Thr1296Ala
XM_017023241.1:c.3799A>G XP_016878730.1:p.Thr1267Ala
XM_017023242.1:c.3718A>G XP_016878731.1:p.Thr1240Ala
NM_004996.4:c.4009A>G MANE Select NP_004987.2:p.Thr1337Ala
Search 100 bp 5'
Search 100 bp 3'