Canonical Allele Identifier: CA2808654820

Gene: SREBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17831431A>C , CM000679.2:g.17831431A>C	GRCh38
NC_000017.10:g.17734745A>C , CM000679.1:g.17734745A>C	GRCh37
NC_000017.9:g.17675470A>C	NCBI36
NG_029029.1:g.10581T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261646.11:c.91+5296T>G MANE Select	ENSP00000261646.5:n.91+5296T>G
ENST00000261646.10:c.91+5296T>G	ENSP00000261646.5:n.91+5296T>G
ENST00000395757.6:c.91+5296T>G	ENSP00000379106.2:n.91+5296T>G
ENST00000261646.9:c.91+5296T>G	ENSP00000261646.5:n.91+5296T>G
ENST00000355815.8:c.91+5296T>G	ENSP00000348069.4:n.91+5296T>G
NM_001005291.2:c.91+5296T>G	NP_001005291.1:n.91+5296T>G
NM_004176.4:c.91+5296T>G	NP_004167.3:n.91+5296T>G
XM_005256772.3:c.91+5296T>G	XP_005256829.1:n.91+5296T>G
XR_429821.2:n.291+5296T>G
XM_024450893.1:c.91+5296T>G	XP_024306661.1:n.91+5296T>G
XM_024450894.1:c.91+5296T>G	XP_024306662.1:n.91+5296T>G
XM_024450895.1:c.91+5296T>G	XP_024306663.1:n.91+5296T>G
XR_002958058.1:n.291+5296T>G
NM_001005291.3:c.91+5296T>G	NP_001005291.1:n.91+5296T>G
NM_001388385.1:c.91+5296T>G	NP_001375314.1:n.91+5296T>G
NM_001388386.1:c.91+5296T>G	NP_001375315.1:n.91+5296T>G
NM_001388387.1:c.91+5296T>G	NP_001375316.1:n.91+5296T>G
NM_001388388.1:c.91+5296T>G	NP_001375317.1:n.91+5296T>G
NM_001388389.1:c.91+5296T>G	NP_001375318.1:n.91+5296T>G
NM_001388390.1:c.91+5296T>G	NP_001375319.1:n.91+5296T>G
NM_001388391.1:c.91+5296T>G	NP_001375320.1:n.91+5296T>G
NM_001388392.1:c.91+5296T>G	NP_001375321.1:n.91+5296T>G
NM_001388393.1:c.91+5296T>G	NP_001375322.1:n.91+5296T>G
NM_001388394.1:c.91+5296T>G	NP_001375323.1:n.91+5296T>G
NM_004176.5:c.91+5296T>G MANE Select	NP_004167.3:n.91+5296T>G
NR_170943.1:n.260+5296T>G
NR_170944.1:n.260+5296T>G
NR_170945.1:n.260+5296T>G
NR_170990.1:n.260+5296T>G