Canonical Allele Identifier: CA2636391143

Gene: SREBF1

Linked Data

• gnomAD v4: 17-17811730-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17811730C>A , CM000679.2:g.17811730C>A	GRCh38
NC_000017.10:g.17715044C>A , CM000679.1:g.17715044C>A	GRCh37
NC_000017.9:g.17655769C>A	NCBI36
NG_007101.2:g.135258C>A
NG_029029.1:g.30282G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261646.11:c.*892G>T MANE Select	ENSP00000261646.5:n.*892G>T
ENST00000261646.10:c.*892G>T	ENSP00000261646.5:n.*892G>T
ENST00000395757.6:c.*25G>T	ENSP00000379106.2:n.*25G>T
ENST00000485080.6:c.398G>T	ENSP00000466643.1:n.398G>T
ENST00000578469.1:c.214G>T
NM_001005291.2:c.*892G>T	NP_001005291.1:n.*892G>T
NM_004176.4:c.*892G>T	NP_004167.3:n.*892G>T
XM_005256772.3:c.*892G>T	XP_005256829.1:n.*892G>T
XM_006721570.2:c.*892G>T	XP_006721633.1:n.*892G>T
XM_011523998.1:c.*892G>T	XP_011522300.1:n.*892G>T
XM_011523999.1:c.*892G>T	XP_011522301.1:n.*892G>T
XR_429821.2:n.4348G>T
XM_024450895.1:c.*307G>T	XP_024306663.1:n.*307G>T
XR_002958058.1:n.3640G>T
NM_001005291.3:c.*892G>T	NP_001005291.1:n.*892G>T
NM_001321096.3:c.*892G>T	NP_001308025.1:n.*892G>T
NM_001388385.1:c.*892G>T	NP_001375314.1:n.*892G>T
NM_001388386.1:c.*717G>T	NP_001375315.1:n.*717G>T
NM_001388387.1:c.*892G>T	NP_001375316.1:n.*892G>T
NM_001388388.1:c.*717G>T	NP_001375317.1:n.*717G>T
NM_001388389.1:c.*892G>T	NP_001375318.1:n.*892G>T
NM_001388390.1:c.*892G>T	NP_001375319.1:n.*892G>T
NM_001388391.1:c.*892G>T	NP_001375320.1:n.*892G>T
NM_001388392.1:c.*892G>T	NP_001375321.1:n.*892G>T
NM_001388393.1:c.*892G>T	NP_001375322.1:n.*892G>T
NM_001388394.1:c.*892G>T	NP_001375323.1:n.*892G>T
NM_004176.5:c.*892G>T MANE Select	NP_004167.3:n.*892G>T
NR_170943.1:n.4317G>T
NR_170944.1:n.3522G>T
NR_170945.1:n.3612G>T
NR_170990.1:n.3468G>T