Canonical Allele Identifier: CA8419618
Community Standard Title: NM_004176.5(SREBF1):c.2549C>T (p.Ala850Val)
Gene: SREBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17814888G>A , CM000679.2:g.17814888G>A GRCh38
NC_000017.10:g.17718202G>A , CM000679.1:g.17718202G>A GRCh37
NC_000017.9:g.17658927G>A NCBI36
NG_029029.1:g.27124C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004176.5:c.2549C>T MANE Select NP_004167.3:p.Ala850Val
ENST00000261646.11:c.2549C>T MANE Select ENSP00000261646.5:p.Ala850Val
NM_001005291.2:c.2639C>T NP_001005291.1:p.Ala880Val
NM_001005291.3:c.2639C>T NP_001005291.1:p.Ala880Val
NM_001321096.2:c.2477C>T NP_001308025.1:p.Ala826Val
NM_001321096.3:c.2477C>T NP_001308025.1:p.Ala826Val
NM_001388385.1:c.2549C>T NP_001375314.1:p.Ala850Val
NM_001388386.1:c.2549C>T NP_001375315.1:p.Ala850Val
NM_001388387.1:c.2588C>T NP_001375316.1:p.Ala863Val
NM_001388388.1:c.2504C>T NP_001375317.1:p.Ala835Val
NM_001388389.1:c.2543C>T NP_001375318.1:p.Ala848Val
NM_001388390.1:c.2531C>T NP_001375319.1:p.Ala844Val
NM_001388391.1:c.2522C>T NP_001375320.1:p.Ala841Val
NM_001388392.1:c.2327C>T NP_001375321.1:p.Ala776Val
NM_001388393.1:c.2168C>T NP_001375322.1:p.Ala723Val
NM_001388394.1:c.2117C>T NP_001375323.1:p.Ala706Val
NM_004176.4:c.2549C>T NP_004167.3:p.Ala850Val
NR_170943.1:n.2718C>T
NR_170944.1:n.2718C>T
NR_170945.1:n.2808C>T
NR_170990.1:n.2718C>T
ENST00000261646.10:c.2549C>T ENSP00000261646.5:p.Ala850Val
ENST00000261646.9:c.2549C>T ENSP00000261646.5:p.Ala850Val
ENST00000355815.8:c.2639C>T ENSP00000348069.4:p.Ala880Val
ENST00000395751.8:c.*1180C>T ENSP00000379100.4:n.*1180C>T
ENST00000395756.5:c.1582C>T
ENST00000395757.5:c.1787C>T ENSP00000379106.1:p.Ala596Val
ENST00000395757.6:c.2549C>T ENSP00000379106.2:p.Ala850Val
ENST00000447641.5:n.524C>T
ENST00000490796.1:n.513C>T
ENST00000581707.1:n.210C>T
ENST00000662439.1:n.2252C>T
XM_005256772.3:c.2543C>T XP_005256829.1:p.Ala848Val
XM_006721570.2:c.2477C>T XP_006721633.1:p.Ala826Val
XM_011523998.1:c.1406C>T XP_011522300.1:p.Ala469Val
XM_011523999.1:c.1106C>T XP_011522301.1:p.Ala369Val
XM_017024970.2:c.1406C>T XP_016880459.1:p.Ala469Val
XM_017024971.1:c.1106C>T XP_016880460.1:p.Ala369Val
XM_024450893.1:c.2549C>T XP_024306661.1:p.Ala850Val
XM_024450894.1:c.2543C>T XP_024306662.1:p.Ala848Val
XM_024450895.1:c.2549C>T XP_024306663.1:p.Ala850Val
XR_002958058.1:n.2749C>T
XR_429821.2:n.2749C>T