Canonical Allele Identifier: CA374322091
Gene: ABCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104828958A>C , CM000671.2:g.104828958A>C GRCh38
NC_000009.11:g.107591239A>C , CM000671.1:g.107591239A>C GRCh37
NC_000009.10:g.106631060A>C NCBI36
NG_007981.1:g.104198T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.2073T>G MANE Select ENSP00000363868.3:p.Ile691Met
ENST00000678995.1:c.2073T>G ENSP00000504612.1:p.Ile691Met
ENST00000374736.7:c.2073T>G ENSP00000363868.3:p.Ile691Met
ENST00000494467.1:n.246T>G
NM_005502.3:c.2073T>G NP_005493.2:p.Ile691Met
XM_005251773.1:c.2073T>G XP_005251830.1:p.Ile691Met
XM_005251776.1:c.1893T>G XP_005251833.1:p.Ile631Met
XM_011518339.1:c.2148T>G XP_011516641.1:p.Ile716Met
XM_011518340.1:c.2148T>G XP_011516642.1:p.Ile716Met
XM_011518341.1:c.2148T>G XP_011516643.1:p.Ile716Met
XM_011518342.1:c.1710T>G XP_011516644.1:p.Ile570Met
XM_011518343.1:c.2148T>G XP_011516645.1:p.Ile716Met
XM_011518344.1:c.2148T>G XP_011516646.1:p.Ile716Met
XM_005251773.3:c.2073T>G XP_005251830.1:p.Ile691Met
XM_005251776.3:c.1893T>G XP_005251833.1:p.Ile631Met
XM_011518339.3:c.2148T>G XP_011516641.1:p.Ile716Met
XM_011518340.3:c.2148T>G XP_011516642.1:p.Ile716Met
XM_011518341.3:c.2148T>G XP_011516643.1:p.Ile716Met
XM_011518342.3:c.1710T>G XP_011516644.1:p.Ile570Met
XM_011518344.2:c.2148T>G XP_011516646.1:p.Ile716Met
XM_017014378.2:c.2148T>G XP_016869867.1:p.Ile716Met
XM_017014379.2:c.2148T>G XP_016869868.1:p.Ile716Met
XM_017014380.2:c.2148T>G XP_016869869.1:p.Ile716Met
XM_017014381.2:c.2148T>G XP_016869870.1:p.Ile716Met
XM_017014382.2:c.2010T>G XP_016869871.1:p.Ile670Met
XR_001746223.1:n.2461T>G
NM_005502.4:c.2073T>G MANE Select NP_005493.2:p.Ile691Met