Canonical Allele Identifier: CA368062456

Gene: ABCB1

Linked Data

• dbSNP Id: rs2129706541
• gnomAD v4: 7-87550050-C-G
• MyVariant Identifiers: chr7:g.87179366C>G (hg19) ; chr7:g.87550050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550050C>G , CM000669.2:g.87550050C>G	GRCh38
NC_000007.13:g.87179366C>G , CM000669.1:g.87179366C>G	GRCh37
NC_000007.12:g.87017302C>G	NCBI36
NG_011513.1:g.168199G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1355G>C	ENSP00000265724.3:p.Ser452Thr
ENST00000622132.5:c.1355G>C MANE Select	ENSP00000478255.1:p.Ser452Thr
ENST00000265724.7:c.1355G>C	ENSP00000265724.3:p.Ser452Thr
ENST00000482527.1:n.109G>C
ENST00000543898.5:c.1163G>C	ENSP00000444095.1:p.Ser388Thr
ENST00000622132.4:c.1355G>C	ENSP00000478255.1:p.Ser452Thr
NM_000927.4:c.1355G>C	NP_000918.2:p.Ser452Thr
NM_001348944.1:c.1355G>C	NP_001335873.1:p.Ser452Thr
NM_001348945.1:c.1565G>C	NP_001335874.1:p.Ser522Thr
NM_001348946.1:c.1355G>C	NP_001335875.1:p.Ser452Thr
NM_001348946.2:c.1355G>C MANE Select	NP_001335875.1:p.Ser452Thr
NM_000927.5:c.1355G>C	NP_000918.2:p.Ser452Thr
NM_001348944.2:c.1355G>C	NP_001335873.1:p.Ser452Thr
NM_001348945.2:c.1565G>C	NP_001335874.1:p.Ser522Thr