Canonical Allele Identifier: CA1951001

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168927262A>G , CM000664.2:g.168927262A>G	GRCh38
NC_000002.11:g.169783772A>G , CM000664.1:g.169783772A>G	GRCh37
NC_000002.10:g.169492018A>G	NCBI36
NG_007374.1:g.109062T>C
NG_007374.2:g.109135T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3512T>C MANE Select	NP_003733.2:p.Met1171Thr
ENST00000650372.1:c.3512T>C MANE Select	ENSP00000497931.1:p.Met1171Thr
NM_003742.2:c.3512T>C	NP_003733.2:p.Met1171Thr
ENST00000263817.6:c.3512T>C	ENSP00000263817.6:p.Met1171Thr
ENST00000439188.1:c.2129T>C	ENSP00000416058.1:n.2129T>C
ENST00000649448.1:c.1889T>C	ENSP00000497165.1:p.Met630Thr
XM_006712817.2:c.3554T>C	XP_006712880.1:p.Met1185Thr
XM_006712817.3:c.3554T>C	XP_006712880.1:p.Met1185Thr
XM_011512077.1:c.3614T>C	XP_011510379.1:p.Met1205Thr
XM_011512077.2:c.3614T>C	XP_011510379.1:p.Met1205Thr
XM_011512078.1:c.3614T>C	XP_011510380.1:p.Met1205Thr
XM_011512078.2:c.3614T>C	XP_011510380.1:p.Met1205Thr
XM_011512079.1:c.3614T>C	XP_011510381.1:p.Met1205Thr
XM_011512081.1:c.1838T>C	XP_011510383.1:p.Met613Thr
XM_011512081.2:c.1838T>C	XP_011510383.1:p.Met613Thr
XM_017005165.1:c.3614T>C	XP_016860654.1:p.Met1205Thr
XM_017005166.1:c.2843T>C	XP_016860655.1:p.Met948Thr
XM_017005167.1:c.2297T>C	XP_016860656.1:p.Met766Thr