Canonical Allele Identifier: CA4327877

Gene: ABCB1

Linked Data

• dbSNP Id: rs553790901
• ExAC: 7:87145830 T / A
• gnomAD v2: 7-87145830-T-A
• gnomAD v3: 7-87516514-T-A
• gnomAD v4: 7-87516514-T-A
• MyVariant Identifiers: chr7:g.87145830T>A (hg19) ; chr7:g.87516514T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516514T>A , CM000669.2:g.87516514T>A	GRCh38
NC_000007.13:g.87145830T>A , CM000669.1:g.87145830T>A	GRCh37
NC_000007.12:g.86983766T>A	NCBI36
NG_011513.1:g.201735A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.3079A>T	ENSP00000265724.3:p.Met1027Leu
ENST00000622132.5:c.3079A>T MANE Select	ENSP00000478255.1:p.Met1027Leu
ENST00000265724.7:c.3079A>T	ENSP00000265724.3:p.Met1027Leu
ENST00000475929.5:n.235A>T
ENST00000483831.1:n.637A>T
ENST00000488737.6:n.721A>T
ENST00000496821.5:n.707A>T
ENST00000543898.5:c.2887A>T	ENSP00000444095.1:p.Met963Leu
ENST00000622132.4:c.3079A>T	ENSP00000478255.1:p.Met1027Leu
NM_000927.4:c.3079A>T	NP_000918.2:p.Met1027Leu
NM_001348944.1:c.3079A>T	NP_001335873.1:p.Met1027Leu
NM_001348945.1:c.3289A>T	NP_001335874.1:p.Met1097Leu
NM_001348946.1:c.3079A>T	NP_001335875.1:p.Met1027Leu
NM_001348946.2:c.3079A>T MANE Select	NP_001335875.1:p.Met1027Leu
NM_000927.5:c.3079A>T	NP_000918.2:p.Met1027Leu
NM_001348944.2:c.3079A>T	NP_001335873.1:p.Met1027Leu
NM_001348945.2:c.3289A>T	NP_001335874.1:p.Met1097Leu