Canonical Allele Identifier: CA368039061
Gene: ABCB1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87509343A>G , CM000669.2:g.87509343A>G GRCh38
NC_000007.13:g.87138659A>G , CM000669.1:g.87138659A>G GRCh37
NC_000007.12:g.86976595A>G NCBI36
NG_011513.1:g.208906T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3421T>C ENSP00000265724.3:p.Ser1141Pro
ENST00000622132.5:c.3421T>C MANE Select ENSP00000478255.1:p.Ser1141Pro
ENST00000265724.7:c.3421T>C ENSP00000265724.3:p.Ser1141Pro
ENST00000475929.5:n.577T>C
ENST00000488737.6:n.1063T>C
ENST00000543898.5:c.3229T>C ENSP00000444095.1:p.Ser1077Pro
ENST00000622132.4:c.3421T>C ENSP00000478255.1:p.Ser1141Pro
NM_000927.4:c.3421T>C NP_000918.2:p.Ser1141Pro
NM_001348944.1:c.3421T>C NP_001335873.1:p.Ser1141Pro
NM_001348945.1:c.3631T>C NP_001335874.1:p.Ser1211Pro
NM_001348946.1:c.3421T>C NP_001335875.1:p.Ser1141Pro
NM_001348946.2:c.3421T>C MANE Select NP_001335875.1:p.Ser1141Pro
NM_000927.5:c.3421T>C NP_000918.2:p.Ser1141Pro
NM_001348944.2:c.3421T>C NP_001335873.1:p.Ser1141Pro
NM_001348945.2:c.3631T>C NP_001335874.1:p.Ser1211Pro