Canonical Allele Identifier: CA398564815

Gene: SREBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17817282C>T , CM000679.2:g.17817282C>T	GRCh38
NC_000017.10:g.17720596C>T , CM000679.1:g.17720596C>T	GRCh37
NC_000017.9:g.17661321C>T	NCBI36
NG_029029.1:g.24730G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004176.5:c.1580G>A MANE Select	NP_004167.3:p.Arg527His
ENST00000261646.11:c.1580G>A MANE Select	ENSP00000261646.5:p.Arg527His
NM_001005291.2:c.1670G>A	NP_001005291.1:p.Arg557His
NM_001005291.3:c.1670G>A	NP_001005291.1:p.Arg557His
NM_001321096.2:c.1508G>A	NP_001308025.1:p.Arg503His
NM_001321096.3:c.1508G>A	NP_001308025.1:p.Arg503His
NM_001388385.1:c.1580G>A	NP_001375314.1:p.Arg527His
NM_001388386.1:c.1580G>A	NP_001375315.1:p.Arg527His
NM_001388387.1:c.1619G>A	NP_001375316.1:p.Arg540His
NM_001388388.1:c.1535G>A	NP_001375317.1:p.Arg512His
NM_001388389.1:c.1574G>A	NP_001375318.1:p.Arg525His
NM_001388390.1:c.1562G>A	NP_001375319.1:p.Arg521His
NM_001388391.1:c.1553G>A	NP_001375320.1:p.Arg518His
NM_001388392.1:c.1358G>A	NP_001375321.1:p.Arg453His
NM_001388393.1:c.1404+414G>A	NP_001375322.1:n.1404+414G>A
NM_001388394.1:c.1148G>A	NP_001375323.1:p.Arg383His
NM_004176.4:c.1580G>A	NP_004167.3:p.Arg527His
NR_170943.1:n.1749G>A
NR_170944.1:n.1749G>A
NR_170945.1:n.1839G>A
NR_170990.1:n.1749G>A
ENST00000261646.10:c.1580G>A	ENSP00000261646.5:p.Arg527His
ENST00000261646.9:c.1580G>A	ENSP00000261646.5:p.Arg527His
ENST00000355815.8:c.1670G>A	ENSP00000348069.4:p.Arg557His
ENST00000395751.8:c.*211G>A	ENSP00000379100.4:n.*211G>A
ENST00000395756.5:c.613G>A
ENST00000395757.5:c.818G>A	ENSP00000379106.1:p.Arg273His
ENST00000395757.6:c.1580G>A	ENSP00000379106.2:p.Arg527His
ENST00000469356.3:n.924G>A
ENST00000471445.5:n.469G>A
ENST00000580540.1:n.381G>A
ENST00000662439.1:n.1283G>A
XM_005256772.3:c.1574G>A	XP_005256829.1:p.Arg525His
XM_006721570.2:c.1508G>A	XP_006721633.1:p.Arg503His
XM_011523998.1:c.437G>A	XP_011522300.1:p.Arg146His
XM_011523999.1:c.137G>A	XP_011522301.1:p.Arg46His
XM_017024970.2:c.437G>A	XP_016880459.1:p.Arg146His
XM_017024971.1:c.137G>A	XP_016880460.1:p.Arg46His
XM_024450893.1:c.1580G>A	XP_024306661.1:p.Arg527His
XM_024450894.1:c.1574G>A	XP_024306662.1:p.Arg525His
XM_024450895.1:c.1580G>A	XP_024306663.1:p.Arg527His
XR_002958058.1:n.1780G>A
XR_429821.2:n.1780G>A