Canonical Allele Identifier: CA14373984
Gene: SREBF1 HGNC NCBI

Linked Data

dbSNP Id: rs1889018

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17831426G>A , CM000679.2:g.17831426G>A GRCh38
NC_000017.10:g.17734740G>A , CM000679.1:g.17734740G>A GRCh37
NC_000017.9:g.17675465G>A NCBI36
NG_029029.1:g.10586C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261646.11:c.91+5301C>T MANE Select ENSP00000261646.5:n.91+5301C>T
ENST00000261646.10:c.91+5301C>T ENSP00000261646.5:n.91+5301C>T
ENST00000395757.6:c.91+5301C>T ENSP00000379106.2:n.91+5301C>T
ENST00000261646.9:c.91+5301C>T ENSP00000261646.5:n.91+5301C>T
ENST00000355815.8:c.91+5301C>T ENSP00000348069.4:n.91+5301C>T
NM_001005291.2:c.91+5301C>T NP_001005291.1:n.91+5301C>T
NM_004176.4:c.91+5301C>T NP_004167.3:n.91+5301C>T
XM_005256772.3:c.91+5301C>T XP_005256829.1:n.91+5301C>T
XR_429821.2:n.291+5301C>T
XM_024450893.1:c.91+5301C>T XP_024306661.1:n.91+5301C>T
XM_024450894.1:c.91+5301C>T XP_024306662.1:n.91+5301C>T
XM_024450895.1:c.91+5301C>T XP_024306663.1:n.91+5301C>T
XR_002958058.1:n.291+5301C>T
NM_001005291.3:c.91+5301C>T NP_001005291.1:n.91+5301C>T
NM_001388385.1:c.91+5301C>T NP_001375314.1:n.91+5301C>T
NM_001388386.1:c.91+5301C>T NP_001375315.1:n.91+5301C>T
NM_001388387.1:c.91+5301C>T NP_001375316.1:n.91+5301C>T
NM_001388388.1:c.91+5301C>T NP_001375317.1:n.91+5301C>T
NM_001388389.1:c.91+5301C>T NP_001375318.1:n.91+5301C>T
NM_001388390.1:c.91+5301C>T NP_001375319.1:n.91+5301C>T
NM_001388391.1:c.91+5301C>T NP_001375320.1:n.91+5301C>T
NM_001388392.1:c.91+5301C>T NP_001375321.1:n.91+5301C>T
NM_001388393.1:c.91+5301C>T NP_001375322.1:n.91+5301C>T
NM_001388394.1:c.91+5301C>T NP_001375323.1:n.91+5301C>T
NM_004176.5:c.91+5301C>T MANE Select NP_004167.3:n.91+5301C>T
NR_170943.1:n.260+5301C>T
NR_170944.1:n.260+5301C>T
NR_170945.1:n.260+5301C>T
NR_170990.1:n.260+5301C>T