Canonical Allele Identifier: CA2390730621
Gene: ABCG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42286666G>C , CM000683.2:g.42286666G>C GRCh38
NC_000021.8:g.43706776G>C , CM000683.1:g.43706776G>C GRCh37
NC_000021.7:g.42579845G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398449.8:c.973+672G>C MANE Select ENSP00000381467.3:n.973+672G>C
ENST00000343687.7:c.1006+672G>C ENSP00000339744.3:n.1006+672G>C
ENST00000347800.6:c.964+672G>C ENSP00000291524.4:n.964+672G>C
ENST00000361802.6:c.973+672G>C ENSP00000354995.2:n.973+672G>C
ENST00000398437.1:c.1411+672G>C ENSP00000381464.1:n.1411+672G>C
ENST00000398449.7:c.973+672G>C ENSP00000381467.3:n.973+672G>C
ENST00000398457.6:c.979+672G>C ENSP00000381475.2:n.979+672G>C
ENST00000462050.5:n.1157+672G>C
ENST00000472587.5:n.987+672G>C
ENST00000496783.1:n.61+672G>C
NM_004915.3:c.973+672G>C NP_004906.3:n.973+672G>C
NM_016818.2:c.973+672G>C NP_058198.2:n.973+672G>C
NM_207174.1:c.1006+672G>C NP_997057.1:n.1006+672G>C
NM_207627.1:c.979+672G>C NP_997510.1:n.979+672G>C
NM_207628.1:c.907+672G>C NP_997511.1:n.907+672G>C
NM_207629.1:c.964+672G>C NP_997512.1:n.964+672G>C
XM_011529806.1:c.1006+672G>C XP_011528108.1:n.1006+672G>C
XM_011529807.1:c.1006+672G>C XP_011528109.1:n.1006+672G>C
XM_011529807.3:c.1006+672G>C XP_011528109.1:n.1006+672G>C
XM_024452141.1:c.1297+672G>C XP_024307909.1:n.1297+672G>C
NM_004915.4:c.973+672G>C NP_004906.3:n.973+672G>C
NM_016818.3:c.973+672G>C MANE Select NP_058198.2:n.973+672G>C
NM_207627.2:c.979+672G>C NP_997510.1:n.979+672G>C
NM_207629.2:c.964+672G>C NP_997512.1:n.964+672G>C