Canonical Allele Identifier: CA4327876

Gene: ABCB1

Linked Data

• dbSNP Id: rs199819428
• ExAC: 7:87145829 A / T
• gnomAD v2: 7-87145829-A-T
• gnomAD v3: 7-87516513-A-T
• gnomAD v4: 7-87516513-A-T
• MyVariant Identifiers: chr7:g.87145829A>T (hg19) ; chr7:g.87516513A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516513A>T , CM000669.2:g.87516513A>T	GRCh38
NC_000007.13:g.87145829A>T , CM000669.1:g.87145829A>T	GRCh37
NC_000007.12:g.86983765A>T	NCBI36
NG_011513.1:g.201736T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.3080T>A	ENSP00000265724.3:p.Met1027Lys
ENST00000622132.5:c.3080T>A MANE Select	ENSP00000478255.1:p.Met1027Lys
ENST00000265724.7:c.3080T>A	ENSP00000265724.3:p.Met1027Lys
ENST00000475929.5:n.236T>A
ENST00000483831.1:n.638T>A
ENST00000488737.6:n.722T>A
ENST00000496821.5:n.708T>A
ENST00000543898.5:c.2888T>A	ENSP00000444095.1:p.Met963Lys
ENST00000622132.4:c.3080T>A	ENSP00000478255.1:p.Met1027Lys
NM_000927.4:c.3080T>A	NP_000918.2:p.Met1027Lys
NM_001348944.1:c.3080T>A	NP_001335873.1:p.Met1027Lys
NM_001348945.1:c.3290T>A	NP_001335874.1:p.Met1097Lys
NM_001348946.1:c.3080T>A	NP_001335875.1:p.Met1027Lys
NM_001348946.2:c.3080T>A MANE Select	NP_001335875.1:p.Met1027Lys
NM_000927.5:c.3080T>A	NP_000918.2:p.Met1027Lys
NM_001348944.2:c.3080T>A	NP_001335873.1:p.Met1027Lys
NM_001348945.2:c.3290T>A	NP_001335874.1:p.Met1097Lys