Canonical Allele Identifier: CA429913132
Gene: ABCB11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.169788965T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168932455T>C , CM000664.2:g.168932455T>C GRCh38
NC_000002.11:g.169788965T>C , CM000664.1:g.169788965T>C GRCh37
NC_000002.10:g.169497211T>C NCBI36
NG_007374.1:g.103869A>G
NG_007374.2:g.103942A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.1452A>G ENSP00000497165.1:p.Lys484=
ENST00000650372.1:c.3135A>G MANE Select ENSP00000497931.1:p.Lys1045=
ENST00000263817.6:c.3135A>G ENSP00000263817.6:p.Lys1045=
ENST00000439188.1:c.1824A>G ENSP00000416058.1:n.1824A>G
NM_003742.2:c.3135A>G NP_003733.2:p.Lys1045=
XM_006712817.2:c.3177A>G XP_006712880.1:p.Lys1059=
XM_011512077.1:c.3237A>G XP_011510379.1:p.Lys1079=
XM_011512078.1:c.3237A>G XP_011510380.1:p.Lys1079=
XM_011512079.1:c.3237A>G XP_011510381.1:p.Lys1079=
XM_011512081.1:c.1461A>G XP_011510383.1:p.Lys487=
NM_003742.4:c.3135A>G MANE Select NP_003733.2:p.Lys1045=
XM_006712817.3:c.3177A>G XP_006712880.1:p.Lys1059=
XM_011512077.2:c.3237A>G XP_011510379.1:p.Lys1079=
XM_011512078.2:c.3237A>G XP_011510380.1:p.Lys1079=
XM_011512081.2:c.1461A>G XP_011510383.1:p.Lys487=
XM_017005165.1:c.3237A>G XP_016860654.1:p.Lys1079=
XM_017005166.1:c.2466A>G XP_016860655.1:p.Lys822=
XM_017005167.1:c.1920A>G XP_016860656.1:p.Lys640=