Canonical Allele Identifier: CA368047252

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87516622-C-T
• MyVariant Identifiers: chr7:g.87145938C>T (hg19) ; chr7:g.87516622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516622C>T , CM000669.2:g.87516622C>T	GRCh38
NC_000007.13:g.87145938C>T , CM000669.1:g.87145938C>T	GRCh37
NC_000007.12:g.86983874C>T	NCBI36
NG_011513.1:g.201627G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2971G>A	ENSP00000265724.3:p.Val991Ile
ENST00000622132.5:c.2971G>A MANE Select	ENSP00000478255.1:p.Val991Ile
ENST00000265724.7:c.2971G>A	ENSP00000265724.3:p.Val991Ile
ENST00000475929.5:n.127G>A
ENST00000483831.1:n.529G>A
ENST00000488737.6:n.613G>A
ENST00000496821.5:n.599G>A
ENST00000543898.5:c.2779G>A	ENSP00000444095.1:p.Val927Ile
ENST00000622132.4:c.2971G>A	ENSP00000478255.1:p.Val991Ile
NM_000927.4:c.2971G>A	NP_000918.2:p.Val991Ile
NM_001348944.1:c.2971G>A	NP_001335873.1:p.Val991Ile
NM_001348945.1:c.3181G>A	NP_001335874.1:p.Val1061Ile
NM_001348946.1:c.2971G>A	NP_001335875.1:p.Val991Ile
NM_001348946.2:c.2971G>A MANE Select	NP_001335875.1:p.Val991Ile
NM_000927.5:c.2971G>A	NP_000918.2:p.Val991Ile
NM_001348944.2:c.2971G>A	NP_001335873.1:p.Val991Ile
NM_001348945.2:c.3181G>A	NP_001335874.1:p.Val1061Ile