Canonical Allele Identifier: CA368044985

Gene: ABCB1

Linked Data

• MyVariant Identifiers: chr7:g.87144737A>C (hg19) ; chr7:g.87515421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515421A>C , CM000669.2:g.87515421A>C	GRCh38
NC_000007.13:g.87144737A>C , CM000669.1:g.87144737A>C	GRCh37
NC_000007.12:g.86982673A>C	NCBI36
NG_011513.1:g.202828T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3092T>G	ENSP00000265724.3:p.Leu1031Trp
ENST00000622132.5:c.3092T>G MANE Select	ENSP00000478255.1:p.Leu1031Trp
ENST00000265724.7:c.3092T>G	ENSP00000265724.3:p.Leu1031Trp
ENST00000475929.5:n.248T>G
ENST00000488737.6:n.734T>G
ENST00000496821.5:n.720T>G
ENST00000543898.5:c.2900T>G	ENSP00000444095.1:p.Leu967Trp
ENST00000622132.4:c.3092T>G	ENSP00000478255.1:p.Leu1031Trp
NM_000927.4:c.3092T>G	NP_000918.2:p.Leu1031Trp
NM_001348944.1:c.3092T>G	NP_001335873.1:p.Leu1031Trp
NM_001348945.1:c.3302T>G	NP_001335874.1:p.Leu1101Trp
NM_001348946.1:c.3092T>G	NP_001335875.1:p.Leu1031Trp
NM_001348946.2:c.3092T>G MANE Select	NP_001335875.1:p.Leu1031Trp
NM_000927.5:c.3092T>G	NP_000918.2:p.Leu1031Trp
NM_001348944.2:c.3092T>G	NP_001335873.1:p.Leu1031Trp
NM_001348945.2:c.3302T>G	NP_001335874.1:p.Leu1101Trp